Abstract
Although individual disease entities may not be frequently encountered in the practice of general radiology, the group of (known and yet unidentified or poorly defined) neurometabolic disorders accounts for a considerable percentage of central nervous system (CNS) pathologies seen, especially in the pediatric population. The prevalence of metabolic diseases is increasingly recognized as being actually higher than previously believed. Furthermore, since most of the metabolic diseases are genetically determined and show autosomal recessive inheritance, in communities where consanguinity is high (i.e., Amish families in Pennsylvania, some Jewish communities, North-American Indian and Saudi tribes, etc.), certain otherwise rare or even exceptional inborn errors of metabolism may be quite common. Indeed, metabolic diseases often exhibit specific ethnic or geographical preponderance, but epidemiological studies indicate that many of them are pan-ethnic and may occur sporadically anywhere [1]–[9].
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Similar content being viewed by others
References
Tang NL, Hui J, Law LK, To KF, Mak TW, Cheung KL, Vreken P, Wanders RJ, Fok TF. Overview of common inherited metabolic diseases in a Southern Chinese population of Hong Kong. Clin Chim Acta 2001;313:195–201.
Gibson KM, Bennett MJ, Naylor EW, Morton DH. 3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of acylcarnitines in blood spots of their children. J Pediatr 1998;132:519–523.
Applegarth DA, Toone JR, Lowry RB. Incidence of inborn errors of metabolism in British Columbia, 1969–1996. Pediatrics 2000;105:e10
Haworth JC, Dilling LA, Seargeant LE. Increased prevalence of hereditary metabolic diseases among native Indians in Manitoba and northwestern Ontario. CMAJ 1991;145:123–129.
Dionisi-Vici C, Rizzo C, Burlina AB, Caruso U, Sabetta G, Uziel G, Abeni D. Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey. J Pediatr 2002;140:321–327.
Ozand PT, Devol EB, Gascon GG. Neurometabolic diseases at a national referral center: five years experience at the King Faisal Specialist Hospital and Research Centre. J Child Neurol 1992;7Suppl:S4–S11.
Wiley V, Carpenter K, Wilcken B. Newborn screening with tandem mass spectrometry: 12 months’ experience in NSW Australia. Acta Paediatr Suppl 1999;88:48–51.
Yasuda N. Geographical variations in inborn errors of metabolism in Japan. Hum Hered 1984;34:1–8.
Wasant P, Svasti J, Srisomsap C, Liammongkolkul S. Inherited metabolic disorders in Thailand. J Med Assoc Thai 2002;85Suppl 2:S700–S709.
Hoffmann GF, Gibson KM, Trefz FK, Nyhan WL, Bremer HJ, Rating D. Neurological manifestations of organic acid disorders. Eur J Pediatr 1994;153(7 Suppl 1):S94–100.
Knerr I, Zschocke J, Trautmann U, Dorland L, de Koning TJ, Müller P, Christensen E, Trefz F, Wündisch GF, Rascher W, Hoffmann GF. Glutaric aciduria type III: A distinctive non-disease? J Inherit Metab Dis 2002;25:483–490.
Dancis J, Hutzler J, Ampola MG. The prognosis of hyperlysinemia: an interim report. Am J Hum Genet 1983;35:438–442.
Steinitz H, Mizrahy O. Essential fructosuria and hereditary fructose intolerance. N Eng J Med 1969;280:222.
Beck M. Variable clinical presentation in lysosomal storage disorders. J Inherit Metab Dis 2001;24Suppl 2:47–51.
Powers JM, Moser HW. Peroxisomal disorders: genotype, phenotype, major neuropathologic lesions, and pathogenesis. Brain Pathol 1998;8:101–120.
Ballard R, Tien RD, Nohria V, Juel V. The Chédiak-Higashi syndrome: CT and MR findings. Pediatr Radiol 1994;24:266–267.
Fournier B, Smeitnink JAM, Dorland L, Berger R, Saudubray JM, Poll-The BT. Peroxisomal disorders: a review. J Inherit Metab Dis 1994;17:470–486.
Aicardi J. The inherited leukodystrophies: a clinical overview. J Inherit Metab Dis 1993;16:733–743.
van der Knaap MS, Valk J, de Neeling N, Nauta JJ. Pattern recognition in magnetic resonance imaging of white matter disorders in children and young adults. Neuroradiology 1991;33:478–493.
Kolodny EH. Dysmyelinating and demyelinating conditions in infancy. Curr Opin Neurol Neurosurg 1993;6:379–386.
Johnston MV, Hoon AH Jr. Possible mechanisms in infants for selective basal ganglia damage from asphyxia, kernicterus, or mitochondrial encephalopathies. J Child Neurol 2000;15:588–591.
Menkes JH, Curran J. Clinical and MR correlates in children with extrapyramidal cerebral palsy. AJNR Am J Neuroradiol 1994;15:451–457.
Hoffmann GF, Meier-Augenstein W, Stockler S, Surtees R, Rating D, Nyhan WL. Physiology and pathophysiology of organic acids in cerebrospinal fluid. J Inherit Metab Dis 1993;16:648–669.
Bellamy MF, McDowell IFW. Putative mechanism for vascular damage by homocysteine. J Inherit Metab Dis 1997;20:307–315.
Ludolph AC, Riepe M, Ullrich K. Excitotoxicity, energy metabolism and neurodegeneration. J Inherit Metab Dis 1993;16:716–723.
Lipton SA, Rosenberg PA. Excitatory amino acids as a final common pathway for neurologic disorder. N Eng J Med 1994;330:613–622.
Forstner R, Hoffmann GF, Gassner I, Heideman P, De Klerk JB, Lawrenz-Wolf B, Doringer E, Weiss-Wichert P, Troger J, Colombo JP, Plochl E. Glutaric aciduria type I: ultrasonographic demonstration of early signs. Pediatr Radiol 1999;29:138–143.
Russel IM, van Sonderen L, van Straaten HLM, Barth PG. Subependymal germinolytic cysts in Zellweger syndrome. Pediatr Radiol 1995;25:254–255.
Buhrer C, Bassir C, von Moers A, Sperner J, Michael T, Scheffner D, Kaufmann HJ. Cranial ultrasound findings in aspartoacylase deficiency (Canavan disease). Pediatr Radiol 1993;23:395–397.
Harbord MG, LeQuesne G. Alexander’s disease: cranial ultrasound findings. Pediatr Radiol 1988;18:341–343.
Sarfati R, Hubert A, Dugué-Maréchaud M, Biran-Mucignat V, Pierre F, Bonneau D. Prenatal Diagnosis of Gaucher’s disease type 2. Ultrasonographic, biochemical and histological aspects. Prenat Diagn 2000;20:340–343.
Sastrowijoto SH, Vandenberghe K, Moerman P, Lauweryns JM, Fryns JP. Prenatal ultrasound diagnosis of rhizomelic chondrodysplasia punctata in a primigravida. Prenatal Diagnosis 1994;14:770–776.
Sasaki M, Sakuragawa N, Takashima S, Hanaoka S, Arima M. MRI and CT findings in Krabbe disease. Pediatr Neurol 1991;7:283–288.
Brismar J, Brismar G, Coates R, Ozand PT. Increased density of the thalamus on CT scans in patients with GM2 gangliosidosis. AJNR Am J Neuroradiol 1990;11:125–130.
Sue CM, Crimmins DS, Soo YS, Pamphlett R, Presgrave CM, Kotsimbos N, Jean-Francois MJB, Byrne E, Morris JGL. Neuroradiological features of six kindreds with MELAS tRNA Leu A3243G point mutation: implications for pathogenesis. J Neurol Neurosurg Psychiatry 1998;65:233–240.
Ho VB, Fitz CR, Chuang SH, Geyer CA. Bilateral basal ganglia lesions: pediatric differential considerations. Radiographics 1993;13:269–292.
Dave P, Curless RG, Steinman L. Cerebellar hemorrhage complicating methylmalonic and propionic acidemia. Arch Neurol 1984;41:1293–1296.
Fischer AQ, Challa VR, Burton BK, McLean WT. Cerebellar hemorrhage complicating isovaleric acidemia: a case report. Neurology 1981;31:746–748.
Steinlin M, Blaser S, Boltshauser E. Cerebellar involvement in metabolic disorders: a pattern recognition approach. Neuroradiology 1998;40:347–354.
Barkovich AJ. MR of the normal neonatal brain: assessment of deep structures. AJNR Am J Neuroradiol 1998;19:1397–1403.
Vasconcellos E, Smith M. MRI nerve root enhancement in Krabbe disease. Pediatr Neurol 1998;19:151–152.
Pittock SJ, Payne TA, Harper CM. Reversible myelopathy in a 34-year-old man with vitamin B12 deficiency. Mayo Clin Proc 2002;77:291–294.
van der Knaap MS, van der Voorn P, Barkhof F, van Coster R, Krageloh-Mann I, Feigenbaum A, Blaser S, Vles JS, Rieckmann P, Pouwels PJ. A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. Ann Neurol 2003;53:252–258.
Larnaout A, Hentati F, Belal S, Ben Hamida C, Kaabachi N, Ben Hamida M. Clinical and pathological study of three Tunisian siblings with L-2-hydroxyglutaric aciduria. Acta Neuropathol 1994;88:367–370.
Fujita K, Takeuchi Y, Nishimura A, Takada H, Sawada T. Serial MRI in infantile bilateral striatal necrosis. Pediatr Neurol 1994;10:157–160.
van der Knaap MS, Naidu S, Breiter SN, Blaser S, Stroink H, Springer S, Begeer JC, van Coster R, Barth PG, Thomas NH, Valk J, Powers JM. Alexander disease: diagnosis with MR imaging. AJNR Am J Neuroradiol 2001;22:541–552.
Clayton PT, Thompson E. Dysmorphic syndromes with demonstrable biochemical abnormalities. J Med Genet 1988;25:463–472.
Kerrigan JF, Aleck KA, Tarby TJ, Bird CR, Heidenreich RA. Fumaric aciduria: clinical and imaging features. Ann Neurol 2000;47:583–588.
Colevas AD, Edwards JL, Hruban RH, Mitchell GA, Valle D, Hutchins GM. Glutaric acidemia type II. Comparison of pathologic features in two infants. Arch Pathol Lab Med 1988;112:1133–1139.
Fletcher JM, Bye AME, Nayanar V, Wilcken B. Nonketotic hyperglycinemia presenting as pachygyria. J Inherit Metab Dis 1995;19:665–668.
Chitayat D, Chemke J, Gibson KM, Mamer OA, Kronick JB, McGill JJ, Rosenblatt B, Sweetman L, Scriver CR. 3-Methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of Prenatal Diagnosis in a ‘new’ type (‘type 4’). J Inherit Metab Dis 1992;15:204–212.
Frei KP, Patronas NJ, Crutchfield KE, Altarescu G, Schiffmann R. Mucolipidosis type IV: characteristic MRI findings. Neurology 1998;51:565–569.
Sonninen P, Autti T, Varho T, Hamalainen M, Raininko R. Brain involvement in Salla disease. AJNR Am J Neuroradiol 1999;20:433–443.
Kyllerman M, Blomstrand S, Mansson JE, Conradi NG, Hindmarsh T. Central nervous system malformations and white matter changes in pseudo-neonatal adrenoleukodystrophy. Neuropediatrics 1990;21:199–201.
Nowaczyk MJ, Blaser SI, Clarke JT. Central nervous system malformations in ethylmalonic encephalopathy. Am J Med Genet 1998;75:292–296.
Ostergaard JR, Reske Nielsen E, Nathan E, Rasmussen K. Incomplete development of the brain in a newborn with methylmalonic aciduria. Clin Neuropathol 1991;10:85–90.
Poggi-Travert F, Fournier B, Poll-The BT, Saudubray JM. Clinical approach to inherited peroxisomal disorders. J Inherit Metab Dis 1995;18Suppl 1:1–18.
Brown GK. Metabolic disorders of embryogenesis. J Inherit Metab Dis 1994;17:448–458.
Osaka H, Kimura S, Nezu A, Yamazaki S, Saitoh K, Yamaguchi S. Chronic subdural hematoma, as an initial manifestation of glutaric aciduria type-1. Brain Dev 1993;15:125–127.
Hoon AH, Reinhardt EM, Kelley RI, Breiter SN, Morton H, Naidu S, Johnston MV. Brain magnetic resonance imaging in suspected extrapyramidal cerebral palsy: Observations in distinguishing genetic-metabolic from acquired causes. J Pediatr 1997;131:240–245.
Zafeiriou DI, Anastasiou AL, Michelakaki EM, Augoustidou-Savvopoulou PA, Katzos GS, Kontopoulos EE. Early infantile Krabbe disease: deceptively normal magnetic resonance imaging and serial neurophysiological studies. Brain Dev 1997;19:488–491.
Prayer D, Barkovich AJ, Kirschner DA, Prayer LM, Roberts TPL, Kucharczyk J, Moseley ME. Visualization of nonstructural changes in early white matter development on diffusion-weighted MR images: evidence supporting premyelination anisotropy. AJNR Am J Neuroradiol 2001;22:1572–1576.
Tzika AA, Ball WS Jr., Vigneron DB, Dunn RS, Kirks DR. Clinical proton MR spectroscopy of neurodegenerative disease in childhood. AJNR Am J Neuroradiol 1993;14:1267–1264.
Vion-Dury J, Meyerhoff DJ, Cozzone PJ, Weiner MW. What might be the impact on neurology of the analysis of brain metabolism by in vivo magnetic resonance spectroscopy. J Neurol 1994;241:354–371.
Kok RD, van den Bergh AJ, Heerschap A, Nijland R, van den Berg PP. Metabolic information from the human fetal brain obtained with proton magnetic resonance spectroscopy. Am J Obstet Gynecol 2001;185:1011–1015.
Fenton BW, Lin C, Macedonia C, Schellinger D, Ascher S. The fetus at term: in utero volume-selected proton MR spectroscopy with a breath-hold technique-afeasibility study. Radiology 2001;219:563–566.
Iles RA, Hind AJ, Chalmers RA. Use of proton nuclear magnetic resonance spectroscopy in detection and study of organic acidurias. Clin Chem 1985;31:1795–1801.
van der Knaap MS, van der Grond J, van Rijen PC, Faber JA, Valk J, Willemse K. Age-dependent changes in localized proton and phosphorus MR spectroscopy of the brain. Radiology 1990;176:509–515.
Lam WW, Wang ZJ, Zhao H, Berry GT, Kaplan P, Gibson J, Kaplan BS, Bilaniuk LT, Hunter JV, Haselgrove JC, Zimmermann RA. 1H MR spectroscopy of the basal ganglia in childhood: a semiquantitative analysis. Neuroradiology 1998;40:315–323.
Takahashi S, Oki J, Miyamoto A, Okuno A. Proton magnetic resonance spectroscopy to study the metabolic changes in the brain of a patient with Leigh syndrome. Brain Dev 1999;21:200–204.
Heindel W, Kugel H, Herholz K. H-1 MRS and18-FDG-PET in children with congenital lactic acidosis [Abstr]. Proc Intl Soc Magn Reson Med 1999.
Shevell MI, Didomenicantonio G, Sylvian M, Arnold DL, O’Gorman AM, Scriver CR. Glutaric acidemia type II: Neuroimaging and spectroscopy evidence for developmental encephalopathy. Pediatr Neurol 1994;12:350–353.
Detre JA, Wang ZY, Bogdan AR, Gusnard DA, Bay CA, Bingham PM, Zimmerman RA. Regional variation in brain lactate in Leigh syndrome by localized 1H magnetic resonance spectroscopy. Ann Neurol 1991;29:218–221.
Rajanayagam V, Grad J, Krivit W, Loes L, Shapiro E, Balthazor M, Aeppli D, Stillman AE. Proton MR spectroscopy of childhood adrenoleukodystrophy. AJNR Am J Neuroradiol 1996;17:1013–1024.
Confort-Gouny S, Vion-Dury J, Chabrol B, Nicoli F, Cozzone PJ. Localised proton magnetic resonance spectroscopy in X-linked adrenoleukodystrophy. Neuroradiology 1995;37:568–575.
Connelly A, Cross JH, Gadian G, Hunter JV, Kirkham FJ, Leonard JV. Magnetic resonance spectroscopy shows increased brain glutamine in ornithine carbamoyl transferase deficiency. Pediatr Res 1993;33:77–81.
Bergman AJ, van der Knaap MS, Smeitink JA, Duran M, Dorland L, Valk J, Poll-The BT. Magnetic resonance imaging and spectroscopy of the brain in propionic acidemia: clinical and biochemical considerations. Pediatr Res 1996;40:404–409.
Bittigau P, Ikonomidou C. Glutamate in neurologic diseases. J Child Neurol 1997;12:471–485.
Fukao T, Yamaguchi S, Orii T, Hashimoto T. Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene. Hum Mutat 1995;5:113–120.
Barbiroli B, Montagna P, Cortelli P, Iotti S, Lodi R, Barboni P, Monari L, Lugaresi E, Frassineti C, Zaniol P. Defective brain and muscle energy metabolism shown by in vivo 31P magnetic resonance spectroscopy in nonaffected carriers of 11778 mtDNA mutation. Neurology 1995;45:1364–1369.
Eleff SM, Barker PB, Blackband SJ, Chatham JC, Litz NW, Johns DR, Bryan RN, Hurko O. Phosphorus magnetic resonance spectroscopy of patients with mitochondrial cytopathies demonstrates decreased levels of brain phosphocreatine. Ann Neurol 1990;27:626–630.
Simon DK, Rodriguez ML, Frosch MP, Quackenbush EJ, Feske SK, Natowicz MR. A unique familial leukodystrophy with adult onset dementia and abnormal glycolipid storage: a new lysosomal disease? J Neurol Neurosurg Psychiatry 1998;65:251–254.
van der Knaap MS, Naidu S, Pouwels PJ, Bonavita S, van Coster R, Lagae L, Sperner J, Surtees R, Schiffmann R, Valk J. New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum. AJNR Am J Neuroradiol 2002;23:1466–1474.
Schiffmann R, Tedeschi G, Kinkel P, Trapp BD, Frank JA, Kaneski CR, Brady RO, Barton NW, Nelson L, Yanovski JA. Leukodystrophy in patients with ovarian dysgenesis. Ann Neurol 1997;41:654–661.
Perez-Cerda C, Merinero B, Marti M, Cabrera JC, Pena L, Garcia MJ, Gangoiti J, Sanz P, Rodriguez-Pombo P, Hoenicka J, Richard E, Muro S, Ugarte M. An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis. Eur J Pediatr 1998;157:50–52.
Kimata KG, Gordan L, Ajax T, Davis PH, Grabowski T. A case of late-onset MELAS. Arch Neurol 1998;55:722–725.
Hammersen S, Brock M, Cervos-Navarro J. Adult onset ceroid lipofuscidosis with clinical findings consistent with a butterfly glioma. J Neurosurg 1998;88:314–318.
Prietsch V, Lindner M, Zschocke J, Nyhan WL, Hoffman GF. Emergency management of inherited metabolic diseases. J Inherit Metab Dis 2002;25:531–546.
al Essa M, Rahbeeni Z, Jumaah S, Joshi S, Al Jishi E, Rashed MS, Al Amoudi M, Ozand PT. Infectious complications of propionic acidemia in Saudia Arabia. Clin Genet 1998;54:90–94.
Kahler SG, Sherwood WG, Woolf D, Lawless ST, Zaritsky A, Bonham J, Taylor CJ, Clarke JT, Durie P, Leonard JV. Pancreatitis in patients with organic acidemias (comment). J Pediatr 1994;124:239–243.
Wilson WG, Cass MB, Sovik O, Gibson KM, Sweetman L. A child with acute pancreatitis and recurrent hypoglycemia due to 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. Eur J Pediatr 1984;142:289–291.
Hamilton RL, Haas RH, Nyhan WL, Powell HC, Grafe MR. Neuropathology of propionic acidemia: a report of two patients with basal ganglia lesions. J Child Neurol 1995;10:25–30.
Haas RH, Marsden DL, Capistrano-Estrada S, Hamilton R, Grafe MR, Wong W, Nyhan WL. Acute basal ganglia infarction in propionic acidemia. J Child Neurol 1995;10:18–22.
Simon P, Weiss FU, Zimmer KP, Koch HG, Lerch MM. Acute and chronic pancreatitis in patients with inborn errors of metabolism. Pancreatology 2001;1:448–456.
Williams GA, Pearl GS, Pollack MA, Anderson RE. Adrenoleukodystrophy: unusual clinical and radiographic manifestation. South Med J 1998;91:770–774.
Wilkinson IA, Hopkins IJ, Pollard AC. Can head injury influence the site of demyelination in adrenoleukodystrophy? Dev Med Child Neurol 1987;29:797–800.
Carmant L, Decarie JC, Fon E, Shevell MI. Transient visual symptoms as the initial manifestation of childhood adrenoleukodystrophy. Pediatr Neurol 1998;19:62–64.
van der Knaap MS, Barth PG, Gabreels FJ, Franzoni E, Begeer JH, Stroink H, Rotteveel JJ, Valk J. A new leukoencephalopathy with vanishing white matter. Neurology 1997;48:845–855.
Henriquez H, el Din A, Ozand PT, Subramanyam SB, al Gain SI. Emergency presentations of patients with methylmalonic acidemia, propionic acidemia and branched chain amino acidemia (MSUD). Brain Dev 1994;16Suppl:86–93.
Chang PF, Huang SF, Hwu WL, Hou JW, Ni YH, Chang MH. Metabolic disorders mimicking Reye’s syndrome. J Formosa Med Assoc 2000;99:295–299.
Gascon GG, Ozand PT, Brismar J. Movement disorders in childhood organic acidurias. Clinical, neuroimaging, and biochemical correlations. Brain Dev 1994;16Suppl:94–103.
Bui TT, Delgado CA, Simon HK. Infant seizures not so infantile: first-time seizures in children under 6 months of age presenting to the ED. Am J Emerg Med 2002;20:518–520.
Dietrich RB, Vining EP, Taira RK, Hall TR, Phillipart M. Myelin disorders of childhood: correlation of MR findings and severity of neurological impairment. J Comput Assist Tomogr 1990;14:693–698.
van der Knaap MS, Barth PG, Stroink H, van Nieuwenhuizen O, Arts WF, Hoogenraad F, Valk J. Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children. Ann Neurol 1995;37:324–334.
van der Knaap MS, Jakobs C, Hoffmann GF, Duran M, Muntau AC, Schweitzer S, Kelley RI, Parrot-Roulaud F, Amiel J, De Lonlay P, Rabier D, Eeg-Olofsson O. D-2-hydroxyglutaric aciduria: further clinical delineation. J Inherit Metab Dis 1999;22:404–413.
Hsich GE, Robertson RL, Irons M, Soul JS, du Plessis AJ. Cerebral infarction in Menkes’ disease. Pediatr Neurol 2000;23:425–428.
de Grauw TJ, Smit LM, Brockstedt M, Meijer Y, Moorsel vK, Jakobs C. Acute hemiparesis as the presenting sign in a heterozygote for ornithine transcarbamylase deficiency. Neuropediatrics 1990;21:133–135.
Pavlakis SG, Kingsley PB, Bialer MG. Stroke in children: genetic and metabolic issues. J Child Neurol 2000;15:308–315.
Shigematsu Y, Mori I, Nakai A, Kikawa Y, Kuriyama M, Konishi Y, Fujii T, Sudo M. Acute infantile hemiplegia in a patient with propionic acidaemia. Eur J Pediatr 1990;149:659–660.
Ozand PT, Rashed M, Millington DS, Sakati N, Hazzaa S, Rahbeeni Z, al Odaib A, Youssef N, Mazrou A, Gascon GG, et al. Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathy. Brain Dev 1994;16Suppl:12–22.
Ruano MM, Castillo M, Thompson JE. MR imaging in a patient with homocystinuria. AJR Am J Roentgenol 1998;171:1147–1149.
Mamourian AC, du Plessis A. Urea cycle defect: a case with MR and CT findings resembling infarct. Pediatr Radiol 1991;21:594–595.
Thompson JE, Smith M, Castillo M, Barrow M, Mukherji SK. MR in children with L-carnitine deficiency. AJNR Am J Neuroradiol 1996;17:1585–1588.
Sperl W, Felber S, Skladal D, Wermuth B. Metabolic stroke in carbamyl phosphate synthetase deficiency. Neuropediatrics 1997;28:229–234.
Zoghbi HY, Spence JE, Beaudet AL, O’Brien WE, Goodman CJ, Gibson KM. Atypical presentation and neuropathological studies in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. Ann Neurol 1986;20:367–369.
Huemer M, Muehl A, Wandl-Vergesslich K, Strobl W, Wanders RJ, Stoeckler-Ipsiroglu S. Stroke-like encephalopathy in an infant with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency. Eur J Pediatr 1998;157:743–746.
Steen C, Baumgartner ER, Duran M, Lehnert W, Suormala T, Fingerhut SR, Stehn M, Kohlschutter A. Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency. Eur J Pediatr 1999;158:730–733.
Mize C, Johnson JL, Rajagopalan KV. Defective molybdopterin biosynthesis: clinical heterogeneity associated with molybdenum cofactor deficiency. J Inherit Metab Dis 1995;18:283–290.
Van Geet C, Jaeken J. A unique pattern of coagulation abnormalities in carbohydrate-deficient glycoprotein syndrome. Pediatr Res 1993;33:540–541.
Heidenreich R, Natowicz M, Hainline BE, Berman P, Kelley RI, Hillman RE, Berry GT. Acute extrapyramidal syndrome in methylmalonic acidemia: “metabolic stroke” involving the globus pallidus. J Pediatr 1988;113:1022–1027.
Hyde TM, Ziegler JC, Weinberger DR. Psychiatric disturbances in metachromatic leukodystrophy. Insights into the neurobiology of psychosis. Arch Neurol 1992;49:401–406.
Estrov Y, Scaglia F, Bodamer OA. Psychiatric symptoms of inherited metabolic disease. J Inherit Metab Dis 2000;23:2–6.
Okano M, Kishiyama K, Satake N, Kubo S, Ishikawa N. A case of fulminant ecthyma gangrenosum associated with Pseudomonas aeruginosa infection in a patient with methylmalonic acidemia. Scand J Infect Dis 1994;26:107–108.
Mohammed MJ. Clinical approach to children with suspected neurodegenerative disorders. Neurosciences 2002;7:2–6.
Edwards MC, Johnson JL, Marriage B, Graf TN, Coyne KE, Rajagopalan KV, MacDonald IM. Isolated sulfite oxidase deficiency: review of two cases in one family. Ophthalmology 1999;106:1957–1961.
Gibson KM, Breuer J, Kaiser K, Nyhan WL, McCoy EE, Ferreira P, Greene CL, Blitzer MG, Shapira E, Reverte F, Conde C, Bagnell P, Cole DEC. 3-hydroxy-3-methylglutaryl-Coenzyme A lyase deficiency: report of five new patients. J Inherit Metab Dis 1988;11:76–87.
Worthen HG, al Ashwal A, Ozand PT, Garawi S, Rahbeeni Z, al Odaib A, Subramanyam SB, Rashed M. Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism. Brain Dev 1994;16Suppl:81–85.
Pitt JJ, Eggington M, Kahler SG. Comprehensive screening of urine samples for inborn errors of metabolism by electrospray tandem mass spectrometry. Clin Chem 2002;48:1970–1980.
Rashed MS, Ozand PT, Bucknall MP, Little D. Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry. Pediatr Res 1995;38:324–331.
Adjalla CE, Hosack AR, Gilfix BM, Lamothe E, Sun S, Chan A, Evans S, Matiaszuk NV, Rosenblatt DS. Seven novel mutations in mut methylmalonic aciduria. Hum Mutat 1998;11:270–274.
Biery BJ, Stein DE, Morton DH, Goodman SI. Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type 1 in the Amish. Am J Hum Genet 1996;59:1006–1011.
Amir N, el-Peleg O, Shalev RS, Christensen E. Glutaric aciduria type I: clinical heterogeneity and neuroradiologic features. Neurology 1987;37:1654–1657.
Treacy E, Clow C, Mamer OA, Scriver CR. Methylmalonic acidemia with a severe chemical but benign clinical phenotype. J Pediatr 1993;122:428–429.
Gibson KM, Sherwood WG, Hoffman GF, Stumpf DA, Dianzani I, Schutgens RB, Barth PG, Weismann U, Bachmann C, Schrynemackers-Pitance P. Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria. J Pediatr 1991;118:885–890.
Gordon K, Riding M, Camfield P, Bawden H, Ludman M, Bagnell P. CT and MR of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency. AJNR Am J Neuroradiol 1994;15:1474–1476.
Ferris NJ, Tien RD. Cerebral MRI in 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: case report. Neuroradiology 1993;35:559–560.
Ozand PT, Al-Aqeel A, Gascon G, Brismar J, Thomas E, Gleispach H. 3-Hydroxy-3-methylglutaryl-coenzyme A (HMGCoA) lyase deficiency in Saudi Arabia. J Inherit Metab Dis 1991;14:174–188.
van der Knaap MS, Kamphorst W, Barth PG, Kraaijeveld CL, Gut E, Valk J. Phenotypic variation in leukoencephalopathy with vanishing white matter. Neurology 1998;51:540–547.
Harpey JP, Heron D, Prudent M, Charpentier C, Rustin P, Ponsot G, Cormier-Daire V. Diffuse leukodystrophy in an infant with cytochrome-c oxidase deficiency. J Inherit Metab Dis 1998;21:748–752.
Polten A, Fluharty AL, Fluharty CB, Kappler J, von Figura K, Gieselmann V. Molecular basis of different forms of metachromatic leukodystrophy. N Eng J Med 1991;324:18–22.
Kappler J, Leinekugel P, Conzelmann E, Kleijer WJ, Kohlsclütter A, Tonnesen T, Rochel M, Freycon F, Propping P. Genotype-phenotype relationship in various degrees of arylsulphatase A deficiency. Hum Genet 1991;86:463–470.
von Moers A, Sperner J, Michael T, Scheffner D, Schutgens RH. Variable course of Canavan disease in two boys with early infantile aspartoacylase deficiency. Dev Med Child Neurol 1991;33:824–828.
Poll-The BT, Skjeldal OH, Stokke O, Poulos A, Demaugre F, Saudubray JM. Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders. Hum Genet 1989;81:175–181.
Mak SC, Chi CS, Tsai CR. Mitochondrial DNA 8993 TC mutation presenting as juvenile Leigh syndrome with respiratory failure. J Child Neurol 1998;13:349–351.
De Klerk JB, Huijmans JG, Stroink H, Robben SG, Jakobs C, Duran M. L-2-hydroxyglutaric aciduria: clinical heterogeneity versus biochemical homogeneity in a sibship. Neuropediatrics 1997;28:314–317.
Stöckler S, Slavc I, Ebner F, Baumgartner R. Asymptomatic lesions of the basal ganglia in a patient with methylmalonic aciduria [letteer]. Eur J Pediatr 1992;151:920.
Endres W. Inherited metabolic diseases affecting the carrier. J Inherit Metab Dis 1997;20:9–20.
Rashed MS, Bucknall MP, Little D, Awad A, Jacob M, Al-Amoudi M, Al-Watter M, Ozand TP. Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles. Clin Chem 1997;43:1129–1141.
Martinez M, Vazquez E. MRI evidence that docosahexaenoic acid ethyl ester improves myelination in generalized peroxisomal disorders. Neurology 1998;51:26–32.
Heindel W, Kugel H, Roth B. Noninvasive detection of increased glycine content by proton MR spectroscopy in the brains of two infants with nonketotic hyperglycinemia. AJNR Am J Neuroradiol 1993;14:629–635.
Pietz J, Dunckelmann R, Rupp A, Rating D, Meinck HM, Schmidt H, Bremer HJ. Neurological outcome in adult patients with early-treated phenylketonuria. Eur J Pediatr 1998;157:824–830.
Schulze A, Mayatepek E, Langhans CD, Bachert P, Ruitenbeek W, Rating D. In vivo methods for therapy monitoring in lactic acidosis. J Inherit Metab Dis 1998;21:691–692.
Engelbrecht V, Rassek M, Huismann J, Wendel U. MR and proton MR spectroscopy of the brain in hyperhomocysteinemia caused by methylenetetrahydrofolate reductase deficiency. AJNR Am J Neuroradiol 1997;18:536–539.
Ozand PT, Gascon GG. Treatment of inherited neurometabolic diseases: the future. J Child Neurol 1992;7Suppl:S132–S140.
Peters C, Steward CG, National Marrow Donor Program, International Bone Marrow Transplant Registry, Working Party on Inborn Errors, European Bone Marrow Transplant Group. Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines. Bone Marrow Transplant 2003;31:229–239.
Krivit W, Peters C, Shapiro EG. Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes, and Gaucher disease type III. Curr Opin Neurol 1999;12:167–176.
Herskhovitz E, Young E, Rainer J, Hall CM, Lidchi V, Chong K, Vellodi A. Bone marrow transplantation for Maroteaux-Lamy syndrome (MPS VI): long-term follow-up. J Inherit Metab Dis 1999;22:50–62.
Gieselmann V, Matzner U, Hess B, Lullmann-Rauch R, Coenen R, Hartmann D, D’Hooge R, DeDeyn P, Nagels G. Metachromatic leukodystrophy: molecular genetics and an animal model. J Inherit Metab Dis 1998;21:564–574.
Solders G, Celsing G, Hagenfeldt L, Ljungman P, Isberg B, Ringden O. Improved peripheral nerve conduction, EEG and verbal IQ after bone marrow transplantation for adult metachromatic leukodystrophy. Bone Marrow Transplant 1998;22:1119–1122.
Stillman AE, Krivit W, Shapiro E, Lockman L, Latchaw RE. Serial MR after bone marrow transplantation in two patients with metachromatic leukodystrophy. AJNR Am J Neuroradiol 1994;15:1929–1932.
Krivit W, Shapiro EG, Peters C, Wagner JE, Cornu G, Kurtzberg J, Wenger DA, Kolodny EH, Vanier MT, Loes DJ, Dusenbery K, Lockman LA. Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy. N Engl J Med 1998;338:1119–1126.
Ozand PT, Nyhan WL, al Aqeel A, Christodoulou J. Malonic aciduria. Brain Dev 1994;16Suppl:7–11.
Rahbeeni Z, Ozand PT, Rashed M, Gascon GG, al Nasser M, al Odaib A, Amoudi M, Nester M, al Garawi S, Brismar J. 4-Hydroxybutyric aciduria. Brain Dev 1994;16Suppl:64–71.
North KN, Korson MS, Gopal YR, Rohr FJ, Brazelton TB, Waisbren SE, Warman ML. Neonatal-onset propionic acidemia: neurologic and developmental profiles, and implications for management. J Pediatr 1995;126:916–922.
Kahler SG, Millington DS, Cederbaum SD, Vargas J, Bond LD, Maltby DA, Gale DS, Roe CR. Parenteral nutrition in propionic and methylmalonic acidemia. J Pediatr 1989;115:235–241.
Nyhan WL, Bay A, Webb Beyer E, Mazi M. Neurologic nonmetabolic presentation of propionic acidemia. Arch Neurol 1999;56:1143–1147.
Sethi KD, Ray R, Roesel RA, Carter AL, Gallagher BB, Loring DW, Hommes FA. Adult-onset chorea and dementia with propionic acidemia. Neurology 1989;39:1343–1345.
Pérez Cerdá C, Merinero B, MartÍ M, Cabrera JC, Pena L, GarcÍa MJ, Gangoiti J, Sanz P, RodrÍguez Pombo P, Hoenicka J, Richard E, Muro S, Ugarte M. An unusual late-onset case of propionic acidaemia: biochemical investigations, neroradiological findings and mutation analysis. Eur J Pediatr 1998;157:50–52.
Chemelli AP, Schocke M, Sperl W, Trieb T, Aichner F, Felber S. Magnetic resonance spectroscopy (MRS) in five patients with treated propionic acidemia. J Magn Reson Imaging 2000;11:596–600.
Mahoney MJ, Bick D. Recent advances in the inherited methylmalonic acidemias. Acta Paediatr Scand 1987;76:689–696.
Wajner M, Coelho JC. Neurological dysfunction in methylmalonic acidaemia is probably related to the inhibitory effect of methylmalonate on brain energy production. J Inherit Metab Dis 1997;20:761–768.
Walter JH, Michalski A, Wilson WM, Leonard JV, Barrah TM, Dillon MJ. Chronic renal disease in methylmalonic acidemia. Eur J Pediatr 1989;148:344–348.
Molteni KH, Oberley TD, Wolff JA, Friedman AL. Progressive renal insufficiency in methylmalonic acidemia. Pediatr Nephrol 1991;5:323–326.
van’t Hoff WG, Dixon M, Taylor J, Mistry P, Rolles K, Rees L, Leonard JV. Combined liver-kidney transplantation in methylmalonic acidemia. J Pediatr 1998;132:1043–1044.
Burlina AP, Manara R, Calderone M, Catuogno S, Burlina AB. Diffusion-weighted imaging in the assessment of neurological damage in patients with methylmalonic aciduria. J Inherit Metab Dis 2003;26:417–422.
Rosenblatt DS, Aspler AL, Shevell MI, Pletcher BA, Fenton WA, Seashore MR. Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC). J Inherit Metab Dis 1997;20:528–538.
Biancheri R, Cerone R, Schiaffino MC, Caruso U, Veneselli E, Perrone MV, Rossi A, Gatti R. Cobalamin (cbl) C/D deficiency: clinical, neurophysiological and neuroradiologic findings in 14 cases. Neuropediatrics 2001;32:14–22
Rossi A, Cerone R, Biancheri R, Gatti R, Schiaffino MC, Fonda C, Zammarchi E, Tortori-Donati P. Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings. AJNR Am J Neuroradiol 2001;22:554–563.
Howard R, Frieden IJ, Crawford D, McCalmont T, Levy ML, Rosenblatt DS, Sweetman L, Goodman SI, Ohnstad C, Hart K, Berrios M, Packman S. Methylmalonic acidemia, cobalamin C type, presenting with cutaneous manifestations. Arch Dermatol 1997;133:1563–1566.
Enns GM, Barkovich AJ, Rosenblatt DS, Fredrick DR, Weisiger K, Ohnstad C, Packman S. Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin. J Inherit Metabol Dis 1999;22:599–607.
Smith DL, Bodamer OA. Practical management of combined methylmalonicaciduria and homocystinuria. J Child Neurol 2002;17:353–356.
Powers JM, Rosenblatt DS, Schmidt RE, Cross AH, Black JT, Moser AB, Moser HW, Morgan DJ. Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency. Ann Neurol 2001;49:396–400.
Korf B, Wallman JK, Levy HL. Bilateral lucency of the globus pallidus complicating methylmalonic acidemia. Ann Neurol 1986;20:364–366.
de Sousa C, Piesowicz AT, Brett EM, Leonard JV. Focal changes in the globi pallidi associated with neurological dysfunction in methylmalonic acidemia. Neuropediatrics 1989;20:199–201.
Roodhooft AM, Baumgartner ER, Martin JJ, Blom W, Van Acker KJ. Symmetrical necrosis of the basal ganglia in methylmalonic acidaemia. Eur J Pediatr 1990;149:582–584.
Brismar J, Ozand PT. CT and MR of the brain in disorders of the propionate and methylmalonate metabolism. AJNR Am J Neuroradiol 1994;15:1459–1473.
Chakrapani A, Sivakumar P, McKiernan PJ, Leonard JV. Metabolic stroke in methylmalonic acidemia five years after liver transplantation. J Pediatr 2002;140:261–263.
Andreula CF, De Blasi R, Carella A. CT and MR studies of methylmalonic acidemia. AJNR Am J Neuroradiol 1991;12:410–412.
Trinh BC, Melhem ER, Barker PB. Multi-slice proton MR spectroscopy and diffusion-weighted imaging in methylmalonic acidemia: report of two cases and review of the literature. AJNR Am J Neuroradiol 2001;22:831–833.
Sugama S, Soeda A, Eto Y. Magnetic resonance imaging in three children with kernicterus. Pediatr Neurol 2001;25:328–331.
Burlina AB, Dionisi-Vici C, Bennett MJ, Gibson KM, Servidei S, Bertini E, Hale DE, Schmidt-Sommerfeld E, Sabetta G, Zacchello F. A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts. J Pediatr 1994;124:79–86.
Bhala A, Willi SM, Rinaldo P, Bennett MJ, Schmidt-Sommerfeld E, Hale DE. Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency. J Pediatr 1995;126:910–915.
Nowaczyk MJ, Lehotay DC, Platt BA, Fisher L, Tan R, Phillips H, Clarke JT. Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism. Metab Clin Exp 1998;47:836–839.
Sewell AC, Herwig J, Bohles H, Rinaldo P, Bhala A, Hale DE. A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria. Eur J Pediatr 1993;152:922–924.
Grosso S, Mostardini R, Farnetani MA, Molinelli M, Berardi R, Dionisi-Vici C, Rizzo C, Morgese G, Balestri P. Ethylmalonic encephalopathy: further clinical and neuroradiological characterization. J Neurol 2002;249:1446–1450.
Lehnert W, Ruitenbeek W. Ethylmalonic aciduria associated with progressive neurological disease and cytochrome c oxydase deficiency. J Inherit Metab Dis 1993;16:557–559.
Garcia-Silva MT, Ribes A, Campos Y, Garavaglia B, Arenas J. Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria. Pediatr Neurol 1997;17:165–170.
Gibson KM, Elpeleg ON, Jakobs C, Costeff H, Kelley RI. Multiple syndromes of 3-methylglutaconic aciduria. Pediatr Neurol 1993;9:120–123.
Al-Aqeel A, Rashed M, Ozand PT, Brismar J, Gascon GG, al Odaib A, Dabbagh O. 3-Methylglutaconic aciduria: ten new cases with a possible new phenotype. Brain Dev 1994;16:Suppl:23–32.
Duran M, Beemer FA, Tibosch AS, Bruinvis L, Ketting D, Wadman SK. Inherited 3-methylglutaconic aciduria in two brothers—another defect of leucine metabolism. J Pediatr 1982;101:551–554.
Shoji Y, Takahashi T, Sawaishi Y, Ishida A, Matsumori M, Shoji Y, Enoki M, Watanabe H, Takada G. 3-Methylglutaconic aciduria type I: clinical heterogeneity as a neurometabolic disease. J Inherit Metab Dis 1999;22:1–8.
Gibson KM, Wappner RS, Jooste S, Erasmus E, Meinie LJ, Gerlo E, Desprechins B, De Meirleir L. Variable clinical presentation in three patients with 3-methylglutaconyl-coenzyme A hydratase deficiency. J Inherit Metab Dis 1999;21:631–638.
Bakkeren JA, Sengers RC, Ruitenbeek W, Trijbels JM. 3-methylglutaconic aciduria in a patient with disturbed mitochondrial energy metabolism. Eur J Pediatr 1992;151:313.
Bione S, D’Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D. A novel X-linked gene, G4.5. is responsible for Barth syndrome. Nat Genet 1996;12:385–389.
Ades LC, Gedeon AK, Wilson MJ, Latham M, Partington MW, Mulley JC, Nelson J, Lui K, Sillence DO. Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28. Am J Med Genet 1993;45:327–334.
Barth PG, Wanders RJ, Vreken P, Janssen EA, Lam J, Baas F. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060). J Inherit Metab Dis 1999;22:555–567.
Barth PG, Scholte HR, Berden JA, Van der Klei-Van Moorsel JM, Luyt-Houwen IE, Van’t Veer-Korthof ET, Van der Harten JJ, Sobotka-Plojhar MA. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leukocytes. J Neurol Sci 1983;62:327–355.
Sheffer RN, Zlotogora J, Elpeleg ON, Raz J, Ben Ezra D. Behr’s syndrome and 3-methylglutaconic aciduria. Am J Ophthalmol 1992;114:494–497.
Costeff H, Elpeleg O, Apter N, Divry P, Gadoth N. 3-Methylglutaconic aciduria in “optic atrophy plus”. Ann Neurol 1993;33:103–104.
Straussberg R, Brand N, Gadoth N. 3-Methylglutaconic aciduria in Iraqi Jewish children may be misdiagnosed as cerebral palsy. Neuropediatrics 1998;29:54–56.
Holme E, Greter J, Jacobson CE, Larsson NG, Lindstedt S, Nilsson KO, Oldfors A, Tulinius M. Mitochondrial ATP-synthase deficiency in a child with 3-methylglutaconic aciduria. Pediatr Res 1992;32:731–735.
Ibel H, Endres W, Hadorn HB, Deufel T, Paetzke I, Duran M, Kennaway NG, Gibson KM. Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria. Eur J Pediatr 1993;152:665–670.
Broide E, Elpeleg O, Lahat E. Type IV 3-methylglutaconic (3-MGC) aciduria: a new case presenting with hepatic dysfunction. Pediatr Neurol 1997;17:353–355.
Gibson KM, Bennett MJ, Mize CE, Jakobs C, Rotig A, Munnich A, Lichter-Konecki U, Trefz FK. 3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects. J Pediatr 1992;121:940–942.
Di Rocco M, Caruso U, Moroni I, Lupino S, Lamantea E, Fantasia AR, Borrone C, Gibson KM. 3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease. J Inherit Metab Dis 1999;22:593–598.
Marzan KAB, Barron TF. MRI abnormalities in Behr syndrome. Pediatr Neurol 1994;10:247–248.
Baethmann M, Wendel U, Hoffmann GF, Gohlich-Ratmann G, Kleinlein B, Seiffert P, Blom H, Voit T. Hydrocephalus internus in two patients with 5,10-methylenetetrahydrofolate reductase deficiency. Neuropediatrics 2000;31:314–317.
Arbelaez A, Castillo M, Stone J. MRI in 3-methylglutaconic aciduria type 1. Neuroradiology 1999;41:941–942.
Pantaleoni C, D’Arrigo S, D’Incerti L, Rimoldi M, Riva D. A case of 3-methylglutaconic aciduria misdiagnosed as cerebral palsy. Pediatr Neurol 2000;23:442–444.
Scaglia F, Sutton VR, Bodamer OA, Vogel H, Shapira SK, Naviaux RK, Vladutiu GD. Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria. J Child Neurol 2001;16:136–138.
Mitchell GA, Ozand PT, Robert MF, Ashmarina L, Roberts J, Gibson KM, Wanders RJ, Wang S, Chevalier I, Plochl E, Miziorko H. HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q. Am J Hum Genet 1998;62:295–300.
Yalcinkaya C, Dincer A, Gündüz E, Ficicioglu C, Kocer N, Aydin A. MRI and MRS in HMG-CoA lyase deficiency. Pediatr Neurol 1999;20:375–380.
Al-Essa M, Rashed M, Ozand PT. 3-hydroxy-3-methylglutaryl-CoA lyase deficiency in a boy with VATER association. J Inherit Metab Dis 1998;21:443–444.
van der Knaap MS, Bakker HD, Valk J. MR imaging and proton spectroscopy in 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency. AJNR Am J Neuroradiol 1998;19:378–382.
Goodman SI, Kohlhoff JG. Glutaric aciduria: inherited deficiency of the glutaryl-CoA dehydrogenase activity. Biochem Med 1975;13:138–140.
Naidu S, Moser HW. Value of neuroimaging in metabolic diseases affecting the CNS. AJNR Am J Neuroradiol 1991;12:413–416.
Ullrich K, Flott-Rahmel B, Schluff P, Musshoff U, Das A, Lücke T, Steinfeld R, Christensen E, Jakobs C, Ludolph A, Neu A, Röper R. Glutaric aciduria type 1: Pathomechanisms of neurodegeneration. J Inherit Metab Dis 1999;22:392–403.
Liebel RL, Shih VE, Goodman SI, Bauman ML, McCabe ERB, Zwerdling RG, Bergman I, Costello C. Glutaric acidemia: a metabolic disorder causing progressive choreoathetosis. Neurology 1980;30:1163–1168.
Bergman I, Finegold D, Gartner JC, Zitelli BJ, Classen D, Scarano J, Roe CR, Stanley C, Goodman SI. Acute profound dystonia in infants with glutaric acidemia. Pediatrics 1989;83:228–234.
Brandt NJ, Brandt S, Christensen E, Gregersen N, Rasmussen K. Glutaric aciduria in progressive choreo-athetosis. Clin Genet 1978;13:77–80.
Kyllerman M, Skjeldal OH, Lundberg M, Holme I, Jellum E, von Döbeln U, Fossen A, Carlsson G. Dystonia and dyskinesia in glutaric aciduria type I: clinical heterogeneity and therapeutic considerations. Mov Disord 1994;9:22–30.
Drigo P, Burlina AB, Battistella PA. Subdural hematoma and glutaric aciduria type 1. Brain Dev 1993;15:460–461.
Hoffmann GF, Athanassopoulos S, Burlina AB, Duran M, De Klerk JB, Lehnert W, Leonard JV, Monavari AA, Muller E, Muntau AC, Naughten ER, Plecko-Starting B, Superti-Furga A, Zschocke J, Christensen E. Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics 1996;27:115–123.
Campistol J, Ribes A, Alvarez L, Christensen E, Millington DS. Glutaric aciduria type I: unusual biochemical presentation. J Pediatr 1992;121:83–86.
Brismar J, Ozand PT. CT and MRI of the brain in glutaric acidemia type 1: a review of 59 published cases and report of 5 new patients. AJNR Am J Neuroradiol 1995;16:675–683.
Iafolla AK, Kahler SG. Megalencephaly in the neonatal period as the initial manifestation of glutaric aciduria type I. J Pediatr 1989;114:1004–1006.
Jamjoom ZA, Okamoto E, Jamjoom AH, Al-Hajery O, Abu-Melha A. Bilateral arachnoid cysts of the sylvian region in female siblings with glutaric aciduria type I. Report of two cases. J Neurosurg 1995;82:1078–1081.
Hald JK, Nakstad PH, Skjeldal OH, Stromme P. Bilateral arachnoid cysts of the temporal fossa in four children with glutaric aciduria type I. AJNR Am J Neuroradiol 1991;12:407–409.
Altman NR, Rovira MJ, Bauer M. Glutaric aciduria type 1: MR findings in two cases. AJNR Am J Neuroradiol 1991;12:966–968.
Yager JY, McClarty BM, Seshia SS. CT-scan findings in an infant with glutaric aciduria type I. Fortschr Geb Rontgenstr Neuen Bildgeb Verfahr 1988;30:808–811.
Mandel H, Braun J, el-Peleg O, Christensen E, Berant M. Glutaric aciduria type I. Brain CT features and a diagnostic pitfall. Neuroradiology 1991;33:75–78.
Nagasawa H, Yamaguchi S, Suzuki Y, Kobayashi M, Wada Y, Shikura K, Shimao S, Okada T, Orii T. Neuroradiological findings in glutaric aciduria type I: report of four Japanese patients. Acta Paediatr Jpn 1992;34:409–415.
Trefz FK, Hoffmann GF, Mayatepek E, Lichter-Konecki U, Weisser J, Otten A, Wendel U, Rating D, Bremer HJ. Macrocephaly as the initial manifestation of glutaryl-CoA-dehydrogenase deficiency (glutaric aciduria type I). Monatsschr Kinderheilkd 1991;139:754–758.
Martinez-Lage JF, Casas C, Fernandez MA, Puche A, Rodriguez CT, Poza M. Macrocephaly, dystonia, and bilateral temporal arachnoid cysts: glutaric aciduria type 1. Childs Nerv Syst 1994;10:198–203.
Gordon N. Canavan disease: a review of recent developments. Eur J Paediatr Neurol 2001;5:65–69.
Barth PG, Hoffmann GF, Jaeken J, Wanders RJ, Duran M, Jansen GA, Jakobs C, Lehnert W, Hanefeld F, Valk J. L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase. J Inherit Metab Dis 1993;16:753–761.
Barbot C, Fineza I, Diogo L, Maia M, Melo J, Guimaraes A, Pires MM, Cardoso ML, Vilarinho L. L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients. Brain Dev 1997;19:268–273.
Rashed MS, Al-Amoudi M, Aboul-Enein HY. Chiral liquid chromatography tandem mass spectrometry in the determination of the configuration of 2-hydroxyglutaric acid in urine. Biomed Chromatogr 2000;14:317–320.
Gibson KM, ten Brink HJ, Schor DS, Kok RM, Bootsma AH, Hoffmann GF, Jakobs C. Stable-isotope dilution analysis of D-and L-2-hydroxyglutaric acid: application to the detection and Prenatal Diagnosis of D-and L-2-hydroxyglutaric acidemias. Pediatr Res 1993;34:277–280.
Bal D, Gradowska W, Gryff-Keller A. Determination of the absolute configuration of 2-hydroxyglutaric acid and 5-oxoproline in urine samples by high-resolution NMR spectroscopy in the presence of chiral lanthanide complexes. J Pharm Biomed Anal 2002;28:1061–1071.
Muntau AC, Roschinger W, Merkenschlager A, van der Knaap MS, Jakobs C, Duran M, Hoffmann GF, Roscher AA. Combined D-2-and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria? Neuropediatrics 2000;31:137–140.
Chen E, Nyhan WL, Jakobs C, Greco CM, Barkovich AJ, Cox VA, Packman S. L-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death. J Inherit Metab Dis 1996;19:335–343.
Fujitake J, Ishikawa Y, Fujii H, Nishimura K, Hayakawa K, Inoue F, Terada N, Okochi M, Tatsuoka Y. L-2-hydroxyglutaric aciduria: two Japanese adult cases in one family. J Neurol 1999;246:378–382.
Barth PG, Hoffmann GF, Jaeken J, Lehnert W, Hanefeld F, van Gennip AH, Duran M, Valk J, Schutgens RB, Trefz FK. L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease. Ann Neurol 1992;32:66–71.
Wilcken B, Pitt J, Heath D, Walsh P, Wilson G, Buchanan N. L-2-hydroxyglutaric aciduria: Three Australian cases. J Inherit Metab Dis 1993;16:501–504.
Ozisik PA, Akalan N, lu S, Topcu M. Medulloblastoma in a child with the metabolic disease L-2-hydroxyglutaric aciduria. Pediatr Neurosurg 2002;37:22–26.
D’Incerti L, Farina L, Moroni I, Uziel G, Savoiardo M. L-2-Hydroxyglutaric aciduria: MRI in seven cases. Neuroradiology 1998;40:727–733.
Sztriha L, Gururaj A, Vreken P, Nork M, Lestringant G. L-2-hydroxyglutaric aciduria in two siblings. Pediatr Neurol 2002;27:141–144.
Buesa C, Pie J, Barcelo A, Casals N, Mascaro C, Casale CH, Haro D, Duran M, Smeitink JA, Hegardt FG. Aberrantly spliced mRNAs of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene with a donor splice-site point mutation produce hereditary HL deficiency. J Lipid Res 1996;37:2420–2432.
Topcu M, Erdem G, Saatci I, Aktan G, ek A, Renda Y, Schutgens RB, Wanders RJ, Jacobs C. Clinical and magnetic resonance imaging features of L-2-hydroxyglutaric acidemia: report of three cases in comparison with Canavan disease. J Child Neurol 1996;11:373–377.
Hanefeld F, Kruse B, Bruhn H, Frahm J. In vivo proton magnetic resonance spectroscopy of the brain in a patient with L-2-hydroxyglutaric acidemia. Pediatr Res 1994;35:614–616.
Warmuth-Metz M, Becker G, Bendszus M, Solymosi L. Spinal canal stenosis in L-2-hydroxyglutaric aciduria. Arch Neurol 2000;57:1635–1637.
Nyhan WL, Shelton GD, Jakobs C, Holmes B, Bowe C, Curry CJ, Vance C, Duran M, Sweetman L. D-2-hydroxyglutaric aciduria. J Child Neurol 1995;10:137–142.
van der Knaap MS, Jakobs C, Hoffmann GF, Nyhan WL, Renier WO, Smeitink JA, Catsman-Berrevoets CE, Hjalmarson O, Vallance H, Sugita K, Bowe CM, Herrin JT, Craigen WJ, Buist NR, Brookfield DS, Chalmers RA. D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity? Ann Neurol 1999;45:111–119.
Craigen WJ, Jakobs C, Sekul EA, Levy ML, Gibson KM, Butler IJ, Herman GE. D-2-hydroxyglutaric aciduria in neonate with seizures and CNS dysfunction. Pediatr Neurol 1994;10:49–53.
Amiel J, De Lonlay P, Francannet C, Picard A, Bruel H, Rabier D, Le Merrer M, Verhoeven N, Jakobs C, Lyonnet S, Munnich A. Facial anomalies in D-2-hydroxyglutaric aciduria. Am J Med Genet 1999;86:124–129.
Baker NS, Sarnat HB, Jack RM, Patterson K, Shaw DW, Herndon SP. D-2-hydroxyglutaric aciduria: hypotonia, cortical blindness, seizures, cardiomyopathy, and cylindrical spirals in skeletal muscle. (erratum appears in J Child Neurol 1997; 12:227). J Child Neurol 1997;12:31–36.
Eeg-Olofsson O, Zhang WW, Olsson Y, Jagell S, Hagenfeldt L. D-2-hydroxyglutaric aciduria with cerebral, vascular, and muscular abnormalities in a 14-year-old boy. J Child Neurol 2000;15:488–492.
Wajne M, Vargas CR, Funayama C, Fernandez A, Elias ML, Goodman SI, Jakobs C, van der Knaap MS. D-2-Hydroxyglutaric aciduria in a patient with a severe clinical phenotype and unusual MRI findings. J Inherit Metab Dis 2002;25:28–34.
Hirono A, Iyori H, Sekine I, Ueyama J, Chiba H, Kanno H, Fujii H, Miwa S. Three cases of hereditary nonspherocytic hemolytic anemia associated with red blood cell glutathione deficiency. Blood 1996;87:2071–2074.
Pitt JJ, Hauser S. Transient 5-oxoprolinuria and high anion gap metabolic acidosis: clinical and biochemical findings in eleven subjects. Clin Chem 1998;44:1497–1503.
Mayatepek E. 5-Oxoprolinuria in patients with and without defects in the gamma-glutamyl cycle. Eur J Pediatr 1999;158:221–225.
de Sousa C, Chalmers RA, Stacey TE, Tracey BM, Weaver CM, Bradley D. The response to L-carnitine and glycine therapy in isovaleric acidaemia. Eur J Pediatr 1986;144:451–456.
Itoh T, Ito T, Ohba S, Sugiyama N, Mizuguchi K, Yamaguchi S, Kidouchi K. Effect of carnitine administration on glycine metabolism in patients with isovaleric acidemia: significance of acetylcarnitine determination to estimate the proper carnitine dose. Tohoku J Exp Med 1996;179:101–109.
Feinstein JA, O’Brien K. Acute metabolic decompensation in an adult patient with isovaleric acidemia. South Med J 2003;96:500–503.
Grodd W, Krageloh-Mann I, Klose U, Sauter R. Metabolic and destructive brain disorders in children: findings with localized proton MR spectroscopy. Radiology 1991;181:173–181.
Yang X, Aoki Y, Li X, Sakamoto O, Hiratsuka M, Kure S, Taheri S, Christensen E, Inui K, Kubota M, Ohira M, Ohki M, Kudoh J, Kawasaki K, Shibuya K, Shintani A, Asakawa S, Minoshima S, Shimizu N, Narisawa K, Matsubara Y, Suzuki Y. Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency. Hum Genet 2001;109:526–534.
Burri BJ, Sweetman L, Nyhan WL. Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency. Am J Hum Genet 1985;37:326–337.
Fuchshuber A, Suormala T, Roth B, Duran M, Michalk D, Baumgartner ER. Holocarboxylase synthetase deficiency: early diagnosis and management of a new case. Eur J Pediatr 1993; 152:446–449.
Livne M, Gibson KM, Amir N, Eshel G, Elpeleg ON. Holocarboxylase synthetase deficiency: a treatable metabolic disorder masquerading as cerebral palsy. J Child Neurol 1994; 9:170–172.
Touma E, Suormala T, Baumgartner ER, Gerbaka B, Ogier dB, Loiselet J. Holocarboxylase synthetase deficiency: report of a case with onset in late infancy. J Inherit Metab Dis 1999; 22:115–122.
Sherwood WG, Saunders M, Robinson BH, Brewster T, Gravel RA. Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset. J Pediatr 1982; 101:546–550.
Gibson KM, Bennett MJ, Nyhan WL, Mize CE. Late-onset holocarboxylase synthetase deficiency. J Inherit Metab Dis 1996; 19:739–742.
Suormala T, Fowler B, Jakobs C, Duran M, Lehnert W, Raab K, Wick H, Baumgartner ER. Late-onset holocarboxylase synthetase-deficiency: pre-and postnatal diagnosis and evaluation of effectiveness of antenatal biotin therapy. Eur J Pediatr 1998; 157:570–575.
Thuy LP, Belmont J, Nyhan WL. Prenatal Diagnosis and treatment of holocarboxylase synthetase deficiency. Prenat Diagn 1999; 19:108–112.
Squires L, Betz B, Umfleet J, Kelley R. Resolution of subependymal cysts in neonatal holocarboxylase synthetase deficiency. Dev Med Child Neurol 1997; 39:267–269.
Wolf B, Grier RE, Allen RJ, Goodman SI, Kien CL, Parker WD, Howell DM, Hurst DL. Phenotypic variation in biotinidase deficiency. J Pediatr 1983; 103:233–237.
Wolf B, Pomponio RJ, Norrgard KJ, Lott IT, Baumgartner ER, Suormala T, Ramaekers VT, Coskun T, Tokatli A, Ozalp I, Hymes J. Delayed-onset profound biotinidase deficiency. J Pediatr 1998; 132:362–365.
Straussberg R, Saiag E, Harel L, Korman SH, Amir J. Reversible deafness caused by biotinidase deficiency. Pediatr Neurol 2000; 23:269–270.
Schurmann M, Engelbrecht V, Lohmeier K, Lenard HG, Wendel U, Gartner J. Cerebral metabolic changes in biotinidase deficiency. J Inherit Metab Dis 1997; 20:755–760.
Kalayci O, Coskun T, Tokatli A, Demir E, Erdem G, Gungor C, Yukselen A, Ozalp I. Infantile spasms as the initial symptom of biotinidase deficiency. J Pediatr 1994; 124:103–104.
Wolf B, Heard GS, Weissbecker KA, McVoy JR, Grier RE, Leshner RT. Biotinidase deficiency: initial clinical features and rapid diagnosis. Ann Neurol 1985; 18:614–617.
Mock DM. Skin manifestations of biotin deficiency. Semin Dermatol 1991; 10:296–302.
Suchy SF, McVoy JS, Wolf B. Neurologic symptoms of biotinidase deficiency: possible explanation. Neurology 1985; 35:1510–1511.
Baumgartner ER, Suormala TM, Wick H, Probst A, Blauenstein U, Bachmann C, Vest M. Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome. Pediatr Res 1989; 26:260–266.
Ginat-Israeli T, Hurvitz H, Klar A, Blinder G, Branski D, Amir N. Deteriorating neurological and neuroradiological course in treated biotinidase deficiency. Neuropediatrics 1993; 24:103–106.
Bousounis DP, Camfield P, Wolf B. Reversal of brain atrophy with biotin treatment in biotinidase deficiency. Neuropediatrics 1993; 24:214–217.
Schulz PE, Weiner SP, Belmont JW, Fishman MA. Basal ganglia calcifications in a case of biotinidase deficiency. Neurology 1988; 38:1326–1328.
Diamantopoulos N, Painter MJ, Wolf B, Heard GS, Roe C. Biotinidase deficiency: accumulation of lactate in the brain and response to physiologic doses of biotin. Neurology 1986; 36:1107–1109.
Ihara K, Kuromaru R, Inoue Y, Kuhara T, Matsumoto I, Yoshino M, Fukushige J. An asymptomatic infant with isolated 3-methylcrotonyl-coenzyme: a carboxylase deficiency detected by newborn screening for maple syrup urine disease. Eur J Pediatr 1997; 156:713–715.
Lehnert W, Niederhoff H, Suormala T, Baumgartner ER. Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: long-term outcome in a case with neonatal onset. Eur J Pediatr 1996; 155:568–572.
Elpeleg ON, Havkin S, Barash V, Jakobs C, Glick B, Shalev RS. Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency. J Pediatr 1992; 121:407–410.
Fukao T, Scriver CR, Kondo N, Collaborative Working Group. The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutationdefined patients. Mol Genet Metab 2001; 72:109–114.
Sovik O. Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: an inborn error of isoleucine and ketone body metabolism. J Inherit Metab Dis 1993; 16:46–54.
Gibson KM, Elpeleg ON, Bennett MJ. Beta-ketothiolase (2-methylacetoacetyl-coenzyme A thiolase) deficiency: Identification of two patients in Israel. J Inherit Metab Dis 1996; 19:698–699.
Ozand PT, Rashed M, Gascon GG, al Odaib A, Shums A, Nester M, Brismar J. 3-Ketothiolase deficiency: a review and four new patients with neurologic symptoms. Brain Dev 1994; 16Suppl:38–45.
Al-Aqeel A, Rashed M, Ozand PT, Gascon GG, Rahbeeni Z, al Garawi S, al Odaib A, Brismar J. A new patient with alpha-ketoglutaric aciduria and progressive extrapyramidal tract disease. Brain Dev 1994; 16Suppl:33–37.
Kohlschutter A, Behbehani A, Langenbeck U, Albani M, Heidemann P, Hoffmann G, Kleineke J, Lehnert W, Wendel U. A familial progressive neurodegenerative disease with 2-oxoglutaric aciduria. Eur J Pediatr 1982; 138:32–37.
Bonnefont JP, Chretien D, Rustin P, Robinson B, Vassault A, Aupetit J, Charpentier C, Rabier D, Saudubray JM, Munnich A. Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis. J Pediatr 1992; 121:255–258.
Bachmann C. Ornithine carbamoyl transferase deficiency: findings, models and problems. J Inherit Metab Dis 1992; 15:578–591.
Maestri NE, Clissold D, Brusilow SW. Neonatal onset ornithine transcarbamylase deficiency: a retrospective analysis. J Pediatr 1999; 134:268–272.
Brunquell P, Tezcan K, DiMario FJ Jr. Electroencephalographic findings in ornithine transcarbamylase deficiency. J Child Neurol 1999; 14:533–536.
Choi CG, Yoo HW. Localized proton MR spectroscopy in infants with urea cycle defect. AJNR Am J Neuroradiol 2001; 22:834–837.
Chen YF, Huang YC, Liu HM, Hwu WL. MRI in a case of adultonset citrullinemia. Neuroradiology 2001; 43:845–847.
Vion-Dury J, Salvan AM, Confort-Gouny S, Cozzone PJ. Atlas of brain proton magnetic resonance spectra. Part II: Inherited metabolic encephalopathies. J Neuroradiol 1998; 25:281–289.
Peinemann F, Danner DJ. Maple syrup urine disease 1954 to 1993. J Inherit Metab Dis 1994; 17:3–15.
Riviello JJ Jr, Rezvani I, Di George AM, Foley CM. Cerebral edema causing death in children with maple syrup urine disease. J Pediatr 1991; 119:42–45.
Taccone A, Schiaffino MC, Cerone R, Fondelli MP, Romano C. Computed tomography in maple syrup urine disease. Eur J Radiol 1992; 14:207–212.
Sie LT, van der Knaap MS, Wezel-Meijler G, Valk J. MRI assessment of myelination of motor and sensory pathways in the brain of preterm and term-born infants. Neuropediatrics 1997; 28:97–105.
Brismar J, Aqeel A, Brismar G, Coates R, Gascon G, Ozand P. Maple syrup urine disease: findings on CT and MR scans of the brain in 10 infants. AJNR Am J Neuroradiol 1990; 11:1219–1228.
Uziel G, Savoiardo M, Nardocci N. CT and MRI in maple syrup urine disease. Neurology 1988; 38:486–488.
Cavalleri F, Berardi A, Burlina AB, Ferrari F, Mavilla L. Diffusion-weighted MRI of maple syrup urine disease encephalopathy. Neuroradiology 2002; 44:499–502.
Jan W, Zimmerman RA, Wang ZJ, Berry GT, Kaplan PB, Kaye EM. MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation. Neuroradiology 2003; 45:393–399.
Felber SR, Sperl W, Chemelli A, Murr C, Wendel U. Maple syrup urine disease: metabolic decompensation monitored by proton magnetic resonance imaging and spectroscopy. Ann Neurol 1993; 33:396–401.
Wang Z, Zimmerman RA, Sauter R. Proton MR spectroscopy of the brain: clinically useful information obtained in assessing CNS disease in children. AJR Am J Roentgenol 1996; 167:191–199.
Surtees R, Blau N. The neurochemistry of phenylketonuria. Eur J Pediatr 2000; 159Suppl 2:109–113
Dyer CA. Comments on the neuropathology of phenylketonuria. Eur J Pediatr 2000; 159Suppl 2:107–108.
Huttenlocher PR. The neuropathology of phenylketonuria: human and animal studies. Eur J Pediatr 2000; 159Suppl 2:S102–S106.
Weglage J, Pietsch M, Feldmann R, Koch HG, Zschocke J, Hoffmann G, Muntau-Heger A, Denecke J, Guldberg P, Güttler F, Möller H, Wendel U, Ullrich K, Harms E. Normal clinical outcome in untreated subjects with mild hyperphenylalaninemia. Pediatr Res 2001; 49:532–536.
Bick U, Ullrich K, Stöber U, Möller H, Schuierer G, Ludolph AC, Oberwittler C, Weglage J, Wendel U. White matter abnormalities in patients with treated hyperphenylalaninaemia: magnetic resonance relaxometry and proton spectroscopy findings. Eur J Pediatr 1993; 152:1012–102
Shaw DW, Weinberger E, Maravilla KR. Cranial MR in phenylketonuria. J Comput Assist Tomogr 1990; 14:458–460.
Pietz J, Meyding-Lamade UK, Schmidt H. Magnetic resonance imaging of the brain in adolescents with phenylketonuria and in one case of 6-pyruvoyl tetrahydropteridine synthase deficiency. Eur J Pediatr 1996; 155Suppl 1:S69–S73.
Thompson AJ, Tillotson S, Smith I, Kendall B, Moore SG, Brenton DP. Brain MRI changes in phenylketonuria. Associations with dietary status. Brain 1993; 116:811–821.
Pietz J, Kreis R, Schmidt H, Meyding-Lamade UK, Rupp A, Boesch C. Phenylketonuria: findings at MR imaging and localized in vivo H-1 MR spectroscopy of the brain in patients with early treatment. Radiology 1996; 201:413–420.
Shaw DW, Maravilla KR, Weinberger E, Garretson J, Trahms CM, Scott CR. MR imaging of phenylketonuria. AJNR Am J Neuroradiol 1991;12:403–406
Cleary MA, Walter JH, Wraith JE, Jenkins JP, Alani SM, Tyler K, Whittle D. Magnetic resonance imaging of the brain in phenylketonuria. Lancet 1994; 344:87–90.
Pearsen KD, Gean-Marton AD, Levy HL, Davis KR. Phenylketonuria: MR imaging of the brain with clinical correlation. Radiology 1990; 177:437–440.
Cleary MA, Walter JH, Wraith JE, White F, Tyler K, Jenkins JP. Magnetic resonance imaging in phenylketonuria: reversal of cerebral white matter change. J Pediatr 1995; 127:251–255.
Sener RN. Diffusion MRI findings in phenylketonuria. Eur Radiol 2003; 13:226–229.
Sener RN. Phenylketonuria: diffusion magnetic resonance imaging and proton magnetic resonance spectroscopy. J Comput Assist Tomogr 2003; 27:541–543.
Novotny EJ Jr, Avison MJ, Herschkowitz N, Petroff OA, Prichard JW, Seashore MR, Rothman DL. In vivo measurement of phenylalanine in human brain by proton nuclear magnetic resonance spectroscopy. Pediatr Res 1995; 37:244–249.
Pietz J, Kreis R, Boesch C, Penzien J, Rating D, Herschkowitz N. The dynamics of brain concentrations of phenylalanine and its clinical significance in patients with phenylketonuria determined by in vivo 1H magnetic resonance spectroscopy. Pediatr Res 1995; 38:657–663.
Moller HE, Vermathen P, Ullrich K, Weglage J, Koch HG, Peters PE. In-vivo NMR spectroscopy in patients with phenylketonuria: changes of cerebral phenylalanine levels under dietary treatment. Neuropediatrics 1995; 26:199–202.
Brismar J, Aqeel A, Gascon G, Ozand PT. Malignant hyperphenylalaninemia: CT and MR of the brain. AJNR Am J Neuroradiol 1990; 11:135–138.
Sugita R, Takahashi S, Ishii K, Matsumoto K, Ishibashi T, Sakamoto K, Narisawa K. Brain CT and MR findings in hyperphenylalaninemia due to dihydropteridine reductase deficiency (variant of phenylketonuria). J Comput Assist Tomogr 1990; 14:699–703.
Gudinchet F, Maeder P, Meuli RA, Deonna T, Mathieu JM. Cranial CT and MRI in malignant phenylketonuria. Pediatr Radiol 1992; 22:223–224.
Fowler B. Disorders of homocysteine metabolism. J Inherit Metab Dis 1997; 20:270–285.
Alpert MA. Homocyst(e)ine, atherosclerosis, and thrombosis. South Med J 1999; 92:858–865.
Surtees R. Biochemical pathogenesis of subacute combined degeneration of the spinal cord and brain. J Inherit Metab Dis 1993; 16:762–770.
Hyland K, Smith I, Bottiglieri T, Perry J, Wendel U, Clayton PT, Leonard JV. Demyelination and decreased S-adenosylmethionine in 5,10-methylenetetrahydrofolate reductase deficiency. Neurology 1988; 38:459–462.
Surtees R, Leonard J, Austin S. Association of demyelination with deficiency of cerebrospinal-fluid S-adenosyl-methionine in inborn errors of methyl-transfer pathway. Lancet 1991; 338:1550–1554.
Kraus JP. Komrower Lecture. Molecular basis of phenotype expression in homocystinuria. J Inherit Metab Dis 1994; 17:383–390.
Kraus JP, Janosik M, Kozich V, Mandell R, Shih V, Sperandeo MP, Sebastio G, de Franchis R, Andria G, Kluijtmans LA, Blom H, Boers GH, Gordon RB, Kamoun P, Tsai MY, Kruger WD, Koch HG, Ohura T, Gaustadnes M. Cystathionine betasynthase mutations in homocystinuria. (Review) (48 refs). Hum Mutat 1999; 13:362–375.
Mudd SH, Skovby F, Levy HL, Pettigrew KD, Wilcken B, Pyeritz RE, Andria G, Boers GH, Bromberg IL, Cerone R. The natural history of homocystinuria due to cystathionine beta-synthase deficiency. Am J Hum Genet 1985; 37:1–31.
Wilcken DE, Wilcken B. The natural history of vascular disease in homocystinuria and the effects of treatment. J Inherit Metab Dis 1997; 20:295–300.
Visy JM, Le Coz P, Chadefaux B, Fressinaud C, Woimant F, Marquet J, Zittoun J, Visy J, Vallat JM, Haguenau M. Homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency revealed by stroke in adult siblings. Neurology 1991; 41:1313–1315.
Linnebank M, Junker R, Nabavi DG, Linnebank A, Koch HG. Isolated thrombosis due to cystathionine beta-syntethase mutation c.833T<C (I278T). J Inherit Metab Dis 2003; 26:509–511.
Kempster PA, Brenton DP, Gale AN, Stern GM. Dystonia in homocystinuria. J Neurol Neurosurg Psychiatry 1988; 51:859–862.
Ludolph AC, Ullrich K, Bick U, Fahrendorf G, Przyrembel H. Functional and morphological deficits in late-treated patients with homocystinuria: a clinical, electrophysiologic and MRI study. Acta Neurol Scand 1991; 83:161–165.
Buoni S, Molinelli M, Mariottini A, Rango C, Medaglini S, Pieri S, Strambi M, Fois A. Homocystinuria with transverse sinus thrombosis. J Child Neurol 2001; 16:688–690.
Rozen R. Molecular genetics of methylenetetrahydrofolate reductase deficiency. J Inherit Metab Dis 1996; 19:589–594.
Fattal-Valevski A, Bassan H, Korman SH, Lerman-Sagie T, Gutman A, Harel S. Methylenetetrahydrofolate reductase deficiency: importance of early diagnosis. J Child Neurol 2000; 15:539–543.
Clayton PT, Smith I, Harding B, Hyland K, Leonard JV, Leeming RJ. Subacute combined degeneration of the cord, dementia and parkinsonism due to an inborn error of folate metabolism. J Neurol Neurosurg Psychiatry 1986; 49:920–927.
Walk D, Kang SS, Horwitz A. Intermittent encephalopathy, reversible nerve conduction slowing, and MRI evidence of cerebral white matter disease in methylenetetrahydrofolate reductase deficiency. Neurology 1994; 44:344–347.
Tada K, Kure S. Nonketotic hyperglycinemia: molecular lesion, diagnosis and pathophysiology. J Inherit Metab Dis 1993; 16:691–703.
Lu FL, Wang PJ, Hwu WL, Tsou Yau KI, Wang TR. Neonatal type of nonketotic hyperglycinemia. Pediatr Neurol 1999; 20:295–300.
Wraith JE. Nonketotic hyperglycinaemia: prolonged survival in a patient with a mild variant. J Inherit Metab Dis 1996; 19:695–696.
Press GA, Barshop BA, Haas RH, Nyhan WL, Glass RF, Hesselink JR. Abnormalities of the brain in nonketotic hyperglycinemia: MR manifestations. AJNR Am J Neuroradiol 1989; 10:315–321.
Weinstein SL, Novotny EJ. Neonatal metabolic disorders masquerading as structural central nervous system abnormalities [Abstr] Ann Neurol 1987; 22:406.
Dobyns WB. Agenesis of the corpus callosum and gyral malformations are frequent manifestations of nonketotic hyperglycinemia. Neurology 1989; 39:817–820.
Van Hove JKL, Kishnani PS, Demaerel P, Kahler SG, Miller C, Jaeken J, Rutledge SL. Acute hydrocephalus in nonketotic hyperglycinemia. Neurology 2000; 54:754–756.
al Essa M, Ozand PT. Pyloric stenosis in a boy with nonketotic hyperglycinaemia. J Inherit Metab Dis 1999; 22:81–82.
Sener RN. Nonketotic hyperglycinemia: Diffusion magnetic resonance imaging findigns. J Comput Assist Tomogr 2003; 27:538–540.
Hamosh A, Maher JF, Bellus GA, Rasmussen SA, Johnston MV. Long-term use of high-dose benzoate and dextromethorphan for the treatment of nonketotic hyperglycinemia. J Pediatr 1998; 132:709–713.
Jaeken J, Detheux M, Van Maldergem L, Foulon M, Carchon H, Van Schaftingen E. 3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis. Arch Dis Child 1996; 74:542–545.
de Koning TJ, Duran M, Van Maldergem L, Pineda M, Dorland L, Gooskens R, Jaeken J, Poll-The BT. Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: outcome of treatment with amino acids. J Inherit Metab Dis 2002; 25:119–125.
de Koning TJ, Jaeken J, Pineda M, Van Maldergem L, Poll-The BT, van der Knaap MS. Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency. Neuropediatrics 2000; 31:287–292.
Levy HL, Brown AE, Williams SE, de Juan E Jr. Vitreous hemorrhage as an ophthalmic complication of galactosemia. J Pediatr 1996; 129:922–925.
Huttenlocher PR, Hillman RE, Hsia YE. Pseudotumor cerebri in galactosemia. J Pediatr 1970; 76:902–905.
Litman N, Kanter AI, Finberg L. Galactokinase deficiency presenting as pseudotumor cerebri. J Pediatr 1975; 86:410–412.
Kaufman FR, McBride-Chang C, Manis FR, Wolff JA, Nelson MD. Cognitive functioning, neurologic status and brain imaging in classical galactosemia. Eur J Pediatr 1995;154(7 Suppl 2):S2–S5.
Koch TK, Schmidt KA, Wagstaff JE, Ng WG, Packman S. Neurologic complications in galactosemia. Pediatr Neurol 1992; 8:217–220.
Berry GT, Hunter JV, Wang Z, Dreha S, Mazur A, Brooks DG, Ning C, Zimmerman RA, Segal S. In vivo evidence of brain galactitol accumulation in an infant with galactosemia and encephalopathy. J Pediatr 2001; 138:260–262.
Segal S. Galactosemia unsolved. Eur J Pediatr 1995;154(7 Suppl 2):S97–S102.
Moller HE, Ullrich K, Vermathen P, Schuierer G, Koch HG. In vivo study of brain metabolism in galactosemia by 1H and 31P magnetic resonance spectroscopy. Eur J Pediatr 1995;154(7 Suppl 2):S8–S13.
Nelson MD Jr, Wolff JA, Cross CA, Donnell GN, Kaufman FR. Galactosemia: evaluation with MR imaging. Radiology 1992; 184:255–261.
Kodama H. Recent developments in Menkes disease. J Inherit Metab Dis 1993; 16:791–799.
Tümer Z, Horn N. Menkes disease: Underlying genetic defect and new diagnostic possibilities. J Inherit Metab Dis 1998; 21:604–612.
Barkovich AJ, Good WV, Koch TK, Berg BO. Mitochondrial disorders: analysis of their clinical and imaging characteristics. AJNR Am J Neuroradiol 1993; 14:1119–1137.
Jacobs DS, Smith AS, Finelli DA, Lanzieri CF, Wiznitzer M. Menkes kinky hair disease: Characteristic MR angiographic findings. AJNR Am J Neuroradiol 1993; 14:1160–1163.
Blaser SI, Berns DH, Ross JS, Lanska MJ, Weissman BM. Serial MR studies in Menkes disease. J Comput Assist Tomogr 1989; 13:113–115.
Johnsen DE, Coleman L, Poe L. MR of progressive neurodegenerative change in treated Menkes’ kinky hair disease. Neuroradiology 1991; 33:181–182.
Geller TJ, Pan Y, Martin DS. Early neuroradiologic evidence of degeneration in Menkes’ disease. Pediatr Neurol 1997; 17:255–258.
Takahashi S, Ishii K, Matsumoto K, Higano S, Ishibashi T, Zuguchi M, Maruoka S, Sakamoto K, Kondo Y. Cranial MRI and MR angiography in Menkes’ syndrome. Neuroradiology 1993; 35:556–558.
Jacobs DS, Smith AS, Finelli DA, Lanzieri CF, Wiznitzer M. Menkes kinky hair disease: characteristic MR angiographic findings. AJNR Am J Neuroradiol 1993; 14:1160–1163.
Waslen TA, Houston CS, Tchang S. Menkes’ kinky-hair disease: radiologic findings in a patient treated with copper histidinate. Can Assoc Radiol J 1995; 46:114–117.
Van Wassenaer-van Hall HN, Van Den Heuvel AG, Algra A, Hoogenraad TU, Mali WP. Wilson disease: findings at MR imaging and CT of the brain with clinical correlation. Radiology 1996; 198:531–536.
Brugieres P, Combes C, Ricolfi F, Degos JD, Poirier J, Gaston A. Atypical MR presentation of Wilson disease: a possible consequence of paramagnetic effect of copper? Neuroradiology 1992; 34:222–224.
Engelbrecht V, Schlaug G, Hefter H, Kahn T, Modder U. MRI of the brain in Wilson disease: T2 signal loss under therapy. J Comput Assist Tomogr 1995; 19:635–638.
Stracciari A, Tempestini A, Borghi A, Guarino M. Effect of liver transplantation on neurological manifestations in Wilson disease. Arch Neurol 2000; 57:384–386.
Van Wassenaer-van Hall HN, Van Den Heuvel AG, Jansen GH, Hoogenraad TU, Mali WP. Cranial MR in Wilson disease: abnormal white matter in extrapyramidal and pyramidal tracts. AJNR Am J Neuroradiol 1995; 16:2021–2027.
Imiya M, Ichikawa K, Matsushima H, Kageyama Y, Fujioka A. MR of the base of the pons in Wilson disease. AJNR Am J Neuroradiol 1992; 13:1009–1012.
Van Den Heuvel AG, van der G J, Van Rooij LG, Van Wassenaer-van Hall HN, Hoogenraad TU, Mali WP. Differentiation between portal-systemic encephalopathy and neurodegenerative disorders in patients with Wilson disease: H-1 MR spectroscopy. Radiology 1997; 203:539–543.
Brown GK. Pyruvate dehydrogenase E1alpha deficiency. J Inherit Metab Dis 1992; 15:625–633.
De Meirleir L, Lissens W, Denis R, Wayenberg JL, Michotte A, Brucher JM, Vamos E, Gerlo E, Liebaers I. Pyruvate dehydrogenase deficiency: clinical and biochemical diagnosis. Pediatr Neurol 1993; 9:216–220.
Shevell MI, Matthews PM, Scriver CR, Brown RM, Otero LJ, Legris M, Brown GK, Arnold DL. Cerebral dysgenesis and lactic acidemia: an MRI/MRS phenotype associated with pyruvate dehydrogenase deficiency. Pediatr Neurol 1994; 11:224–229.
Cross JH, Connelly A, Gadian DG, Kendall BE, Brown GK, Brown RM, Leonard JV. Clinical diversity of pyruvate dehydrogenase deficiency. Pediatr Neurol 1994; 10:276–283.
Kendall BE. Inborn errors and demyelination: MRI and the diagnosis of white matter disease. J Inher Metab Dis 1993; 16:771–786.
Harada M, Tanouchi M, Arai K, Nishitani H, Miyoshi H, Hashimoto T. Therapeutic efficacy of a case of pyruvate dehydrogenase complex deficiency monitored by localized proton magnetic resonance spectroscopy. Magn Reson Imaging 1996; 14:129–133.
Rutledge SL, Snead OC III, Kelly DR, Kerr DS, Swann JW, Spink DL, Martin DL. Pyruvate carboxylase deficiency: acute exacerbation after ACTH treatment of infantile spasms. Pediatr Neurol 1989; 5:249–252.
Van Coster RN, Fernhoff PM, De Vivo DC. Pyruvate carboxylase deficiency: a benign variant with normal development. Pediatr Res 1991; 30:1–4.
Brun N, Robitaille Y, Grignon A, Robinson BH, Mitchell GA, Lambert M. Pyruvate carboxylase deficiency: prenatal onset of ischemia-like brain lesions in two sibs with the acute neonatal form. Am J Med Genet 1999; 84:94–101.
Naviaux RK. Mitochondrial DNA disorders. Eur J Pediatr 2000; 159Suppl 3:219–226.
Munnich A, Rustin P, Rotig A, Chretien D, Bonnefont JP, Nuttin C, Cormier V, Vassault A, Parvy P, Bardet J, Charpentier C, Rabier D, Saudubray JM. Clinical aspects of mitochondrial disorders. J Inherit Metab Dis 1992; 15:448–455.
de Koning TJ, de Vries LS, Groenendaal F, Ruitenbeek W, Jansen GH, Poll-The BT, Barth PG. Pontocerebellar hypoplasia associated with respiratory-chain defects. Neuropediatrics 1999; 30:93–95.
Sue CM, Bruno C, Andreu AL, Cargan A, Mendell JR, Tsao CY, Luquette M, Paolicchi J, Shanske S, DiMauro S, De Vivo DC. Infantile encephalopathy associated with the MELAS A3243G mutation. J Pediatr 1999; 134:696–700.
Funalot B, Reynier P, Vighetto A, Ranoux D, Bonnefont JP, Godinot C, Malthiery Y, Mas JL. Leigh-like encephalopathy complicating Leber’s hereditary optic neuropathy. Ann Neurol 2002; 52:374–377.
Chen RS, Huang CC, Lee CC, Wai YY, Hsi MS, Pang CY, Wei YH. Overlapping syndrome of MERRF and MELAS: molecular and neuroradiological studies. Acta Neurol Scand 1993; 87:494–498.
Corona P., Antozzi C., Carrar F., D’Incerti L, Lamantea E., Tiranti V., Zeviani M. A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients. Ann Neurol 2000; 49:106–110.
Carelli V, Valentino ML, Liguori R, Meletti S, Vetrugno R, Provini F, Mancardi GL, Bandini F, Baruzzi A, Montagna P. Leber’s hereditary optic neuropathy (LHON/11778) with myoclonus: report of two cases. J Neurol Neurosurg Psychiatry 2001; 71:813–816.
Berkovic SF, Carpenter S, Evans A, Karpati G, Shoubridge EA, Andermann F, Meyer E, Tyler JL, Diksic M, Arnold D. Myoclonus epilepsy and ragged-red fibres (MERRF). 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study. Brain 1989; 112:1231–1260.
Prayson RA, Wang N. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome. An autopsy report. Arch Pathol Lab Med 1998; 122:978–981.
Munoz A, Mateos F, Simon R, Garcia-Silva MT, Cabello S, Arenas J. Mitochondrial diseases in children: neuroradiological and clinical features in 17 patients. Neuroradiology 1999; 41:920–928.
Brown RM, Brown GK. Complementation analysis of systemic cytochrom oxidase deficiency presenting as leigh syndrome. J Inherit Metab Dis 1996; 19:752–760.
Naito E, Ito M, Yokota I, Saiki T, Matsuda J, Osaka H, Kimura S, Kuroda Y. Biochemical and molecular analysis of an Xlinked case of Leigh syndrome associated with thiaminresponsive pyruvate dehydrogenase deficiency. J Inherit Metab Dis 1997; 20:539–548.
Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, Christodoulou J, Thorburn DR. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol 1996; 39:343–351.
Arii J, Tanabe Y. Leigh syndrome: serial MR imaging and clinical follow-up. Ajnr: Am J Neuroradiol 2000; 21:1502–1509.
Absalon MJ, Harding CO, Fain DR, Li L, Mack KJ. Leigh syndrome in an infant resulting from mitochondrial DNA depletion. Pediatr Neurol 2001; 24:60–63.
Amiel J, Gagey V, Rabier D, Dorche C, Bonnefont JP, Dufier JL, Saudubray JM, Rey J, Munnich A. Sulfite oxidase deficiency presenting as Leigh syndrome. Arch Pediatr 1994; 1:1023–1027.
Medina L, Chi TL, DeVivo DC, Hilal SK. MR findings in patients with subacute necrotizing encephalomyelopathy (Leigh syndrome): correlation with biochemical defect. AJR Am J Roentgenol 1990; 154:1269–1274.
Valanne L, Ketonen L, Majander A, Suomalainen A, Pihko H. Neuroradiologic findings in children with mitochondrial disorders. AJNR Am J Neuroradiol 1998; 19:369–377.
Savoiardo M, Ciceri E, D’Incerti L, Uziel G, Scotti G. Symmetric lesions of the subthalamic nuclei in mitochondrial encephalopathies: An almost distinctive mark of Leigh disease with COX deficiency. Am J Neuroradiol 1995; 16:1746–1747.
Rossi A, Biancheri R, Bruno C, Di Rocco M, Calvi A, Pessagno A, Tortori-Donati P. Leigh syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings. AJNR Am J Neuroradiol 2003; 24:1188–1191.
Vilarinho L, Leao E, Barbot C, Santos M, Rocha H, Santorelli FM. Clinical and molecular studies in three Portuguese mtDNA T8993G families. Pediatr Neurol 2000; 22:29–32.
Wijburg FA, Barth PG, Bindoff LA, Birch-Machin MA, van der Blij JF, Ruitenbeek W, Turnbull DM, Schutgens RB. Leigh syndrome associated with a deficiency of the pyruvate dehydrogenase complex: results of treatment with a ketogenic diet. Neuropediatrics 1992; 23:147–152.
Narita T, Yamano T, Ohno M, Takano T, Ito R, Shimada M. Hypertension in Leigh syndrome-a case report. Neuropediatrics 1998; 29:265–267.
Lin YC, Lee WT, Wang PJ, Shen YZ. Vocal cord paralysis and hypoventilation in a patient with suspected Leigh disease. Pediatr Neurol 1999; 20:223–225.
Topcu M, Saatci I, Apak RA, Soylemezoglu F, Akcoren Z. Leigh syndrome in a 3-year-old boy with unusual brain MR imaging and pathologic findings. AJNR Am J Neuroradiol 2000; 21:224–227.
Warmouth-Metz M, Büsse HM, Solymosi L. Uncommon morphologic characteristics in Leigh’s disease. AJNR Am J Neuroradiol 1999; 20:1158–1160.
Krageloh-Mann I, Grodd W, Niemann G, Haas G, Ruitenbeek W. Assessment and therapy monitoring of Leigh disease by MRI and proton spectroscopy. Pediatr Neurol 1992; 8:60–64.
Herzberg NH, van Schooneveld MJ, Bleeker-Wagemakers EM, Zwart R, Cremers FP, van der Knaap MS, Bolhuis PA, de Visser M. Kearns-Sayre syndrome with a phenocopy of choroideremia instead of pigmentary retinopathy. Neurology 1993; 43:218–221.
Ishikawa Y, Goto Y, Ishikawa Y, Minami R. Progression in a case of Kearns-Sayre syndrome. J Child Neurol 2000; 15:750–755.
Chu BC, Terae S, Takahashi C, Kikuchi Y, Miyasaka K, Abe S, Minowa K, Sawamura T. MRI of the brain in the Kearns-Sayre syndrome: report of four cases and a review. Neuroradiology 1999; 41:759–764.
Pavlakis SG, Phillips PC, DiMauro S, De Vivo DC, Rowland LP. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a distinctive clinical syndrome. Ann Neurol 1984; 16:481–488.
Sharfstein SR, Gordon MF, Libman RB, Malkin SM. Adultonset MELAS presenting as herpes encephalitis. Arch Neurol 1999; 56:241–243.
Yonemura K, Hasegawa Y, Kimura K, Minematsu K, Yamaguchi T. Diffusion-weighted MR imaging in a case of mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. AJNR Am J Neuroradiol 2001; 22:269–272.
Oppenheim C, Galanaud D, Samson Y, Sahel M, Dormont D, Wechsler B, Marsault C. Can diffusion weighted magnetic resonance imaging help differentiate stroke from strokelike events in MELAS. J Neurol Neurosurg Psychiatry 2000; 69:248–250.
Ohshita T, Oka M, Imon Y, Watanabe C, Katayama S, Yamaguchi S, Kajima T, Mimori Y, Nakamura S. Serial diffusion-weighted imaging in MELAS. Neuroradiology 2000; 42:651–656.
Yoneda M, Maeda M, Kimura H, Fujii A, Katayama K, Kuriyama M. Vasogenic edema on MELAS: a serial study with diffusion-weighted MR imaging. Neurology 1999; 53:2182–2184.
Pavlakis SG, Kingsley PB, Kaplan GP, Stacpoole PW, O’Shea M, Lustbader D. Magnetic resonance spectroscopy: use in monitoring MELAS treatment. Arch Neurol 1998; 55:849–852.
Kendall B. Disorders of lysosomes, peroxisomes, and mitochondria. AJNR Am J Neuroradiol 1992; 13:621–653.
Larsson NG, Andersen O, Holme E, Oldfors A, Wahlstrom J. Leber’s hereditary optic neuropathy and complex I deficiency in muscle. Ann Neurol 1991; 30:701–708.
Nikoskelainen EK, Marttila RJ, Huoponen K, Juvonen V, Lamminen T, Sonninen P, Savontaus ML. Leber’s “plus”: neurological abnormalities in patients with Leber’s hereditary optic neuropathy. J Neurol Neurosurg Psychiatry 1995; 59:160–164.
Newman NJ, Lott MT, Wallace DC. The clinical characteristics of pedigrees of Leber’s hereditary optic neuropathy with the 11778 mutation. Am J Ophthalmol 1991; 111:750–762.
Harding AE, Sweeney MG, Miller DH, Mumford CJ, Kellar-Wood H, Menard D, McDonald WI, Compston DA. Occurrence of a multiple sclerosis-like illness in women who have a Leber’s hereditary optic neuropathy mitochondrial DNA mutation. Brain 1992; 115:979–989.
Morrissey SP, Borruat FX, Miller DH, Moseley IF, Sweeney MG, Govan GG, Kelly MA, Francis DA, Harding AE, McDonald WI. Bilateral simultaneous optic neuropathy in adults: clinical, imaging, serological, and genetic studies. J Neurol Neurosurg Psychiatry 1995; 58:70–74.
Mashima Y, Oshitari K, Imamura Y, Momoshima S, Shiga H, Oguchi Y. Orbital high resolution magnetic resonance imaging with fast spin echo in the acute stage of Leber’s hereditary optic neuropathy. J Neurol Neurosurg Psychiatry 1998; 64:124–127.
Inglese M, Rovaris M, Bianchi S, La Mantia L, Mancardi GL, Ghezzi A, Montagna P, Salvi F, Filippi M. Magnetic resonance imaging, magnetisation transfer imaging, and diffusion weighted imaging correlates of optic nerve, brain, and cervical cord damage in Leber’s hereditary optic neuropathy. J Neurol Neurosurg Psychiatry 2001; 70:444–449.
Olsen NK, Hansen AW, Norby S, Edal AL, Jorgensen JR, Rosenberg T. Leber’s hereditary optic neuropathy associated with a disorder indistinguishable from multiple sclerosis in a male harbouring the mitochondrial DNA 11778 mutation. Acta Neurol Scand 1995; 91:326–329.
Larsson A, Mattsson B, Wauters EA, van Gool JD, Duran M, Wadman SK. 5-oxoprolinuria due to hereditary 5-oxoprolinase deficiency in two brothers—a new inborn error of the gamma-glutamyl cycle. Acta Paediatr Scand 1981; 70:301–308.
Tamaoki Y, Kimura M, Hasegawa Y, Iga M, Inoue M, Yamaguchi S. A survey of Japanese patients with mitochondrial fatty acid beta-oxidation and related disorders as detected from 1985 to 2000. Brain Dev 2002; 24:675–680.
Treem WR. New developments in the pathophysiology, clinical spectrum, and diagnosis of disorders of fatty acid oxidation. Curr Opin Pediatr 2000; 12:463–468.
Rashed MS, Ozand PT, Bennett MJ, Barnard JJ, Govindaraju DR, Rinaldo P. Inborn errors of metabolism diagnosed in sudden death cases by acylcarnitine analysis of postmortem bile. Clin Chem 1995; 41:1109–1114.
Hwu WL, Chiang SC, Chang MH, Wang TR. Carnitine transport defect presenting with hyperammonemia: report of one case. Acta Paediatr Taiwan 2000; 41:36–38.
Invernizzi F, Burlina AB, Donadio A, Giordano G, Taroni F, Garavaglia B. Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency. J Inherit Metab Dis 2001; 24:601–602.
Ohtani Y, Tomoda A, Miike T, Matsukura M, Miyatake M, Narazaki O. Central nervous system disorders and possible brain type carnitine palmitoyltransferase II deficiency. Brain Dev 1994; 16:139–145.
Vockley J. The changing face of disorders of fatty acid oxidation. Mayo Clin Proc 1994; 69:249–257.
Pons R, Roig M, Riudor E, Ribes A, Briones P, Ortigosa L, Baldellou A, Gil-Gibernau J, Olesti M, Navarro C, Wanders RJ. The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Pediatr Neurol 1996; 14:236–243.
Tein I, Haslam RH, Rhead WJ, Bennett MJ, Becker LE, Vockley J. Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy. Neurology 1999; 52:366–372.
Bohm N, Uy J, Kiessling M, Lehnert W. Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers. II. Morphology and pathogenesis. Eur J Pediatr 1982; 139:60–65.
Stockler S, Radner H, Karpf EF, Hauer A, Ebner F. Symmetric hypoplasia of the temporal cerebral lobes in an infant with glutaric aciduria type II (multiple acyl-coenzyme A dehydrogenase deficiency). J Pediatr 1994; 124:601–604.
Takanashi JI, Fujii K, Sugita K, Kohno Y. Neuroradiologic findings in glutaric aciduria type II. Pediatr Neurol 1999; 20:142–145.
Fowler GW, Sukoff M, Hamilton A, Williams JP. Communicating hydrocephalus in children with genetic inborn errors of metabolism. Childs Brain 1975; 1:251–254.
Barone R, Nigro F, Triulzi F, Musumeci S, Fiumara A, Pavone L. Clinical and neuroradiological follow-up in mucopolysaccharidosis type III (Sanfilippo syndrome). Neuropediatrics 1999; 30:283–288.
Takahashi Y, Sukegawa K, Aoki M, Ito A, Suzuki K, Sakaguchi H, Watanabe M, Isogal K, Mizuno S, Hoshi H, Kuwata K, Tomatsu S, Kato S, Ito T, Kondo N, Orii T. Evaluation of accumulated mucopolysaccharides in the brain of patients with mucopolysaccharidoses by 1H-magnetic resonance spectroscopy before and after bone marrow transplantation. Pediatr Res 2001; 49:349–355.
Boor R, Miebach E, Brühl K, Beck M. Abnormal somatosensory evoked potentials indicate compressive cervical myelopathy in mucopolysaccharidoses. Neuropediatrics 2000; 31:122–127.
Kachur E, Del Maestro R. Mucopolysaccharidoses and spinal cord compression: Case report and review of the literature with implications of bone marrow transplantation. Neurosurgery 2000; 47:223–229.
Hite SH, Peters C, Krivit W. Correction of odontoid dysplasia following bone-marrow transplantation and engraftment (in Hurler syndrome MPS 1H). Pediatr Radiol 2000; 30:464–470.
Hohenschutz C, Eich P, Friedl W, Waheed A, Conzelmann E, Propping P. Pseudodeficiency of arylsulphatase A: a common genetic polymorphism with possible disease inplications. Hum Genet 1989; 82:45–48.
Brockmann K, Finsterbusch J, Terwey B, Frahm J, Hanefeld F. Megalencephalic leukoencephalopathy with subcortical cysts in an adult: quantitative proton MR spectroscopy and diffusion tensor MRI. Neuroradiology 2003; 45:137–142.
Gieselmann V, Polten A, Kreysing J, von Figura K. Molecular genetics of metachromatic leukodystrophy. J Inherit Metab Dis 1994; 17:500–509.
Kappler J, von Figura K, Gieselmann V. Late-onset metachromatic leukodystrophy: molecular pathology in two siblings. Ann Neurol 1992; 31:256–261.
Bostantjopoulou S, Katsarou Z, Michelakaki H, Kazis A. Seizures as a presenting feature of late onset metachromatic leukodystrophy. Acta Neurol Scand 2000; 102:192–195.
Fukumizu M, Matsui K, Hanaoka S, Sakuragawa N, Kurokawa T. Partial seizures in two cases of metachromatic leukodystrophy: electrophysiologic and neuroradiologic findings. J Child Neurol 1992; 7:381–386.
Waltz G, Harik SI, Kaufman B. Adult metachromatic leukodystrophy. Value of computed tomographic scanning and magnetic resonance imaging of the brain. Arch Neurol 1987; 44:225–227.
Kim TS, Kim IO, Kim WS, Choi YS, Lee JY, Kim OW, Yeon KM, Kim KJ, Hwang YS. MR of childhood metachromatic leukodystrophy. AJNR Am J Neuroradiol 1997; 18:733–738.
Faerber EN, Melvin J, Smergel EM. MRI appearances of metachromatic leukodystrophy. Pediatr Radiol 1999; 29:669–672.
Zafeiriou DI, Kontopoulos EE, Michelakakis HM, Anastasiou AL, Gombakis NP. Neurophysiology and MRI in lateinfantile metachromatic leukodystrophy. Pediatr Neurol 1999; 21:843–846.
Kruse B, Hanefeld F, Christen HJ, Bruhn H, Michaelis T, Hanicke W, Frahm J. Alterations of brain metabolites in metachromatic leukodystrophy as detected by localized proton magnetic resonance spectroscopy in vivo. J Neurol 1993; 241:68–74.
Landrieu P, Blanche S, Vanier MT, Metral S, Husson B, Sandhoff K, Fischer A. Bone marrow transplantation in metachromatic leukodystrophy caused by saposin-B deficiency: a case report with a 3-year follow-up period. J Pediatr 1998; 133:129–132.
Mancini GM, van Diggelen OP, Huijmans JG, Stroink H, de Coo RF. Pitfalls in the diagnosis of multiple sulfatase deficiency. Neuropediatrics 2001; 32:38–40.
Fu L, Inui K, Nishigaki T, Tatsumi N, Tsukamoto H, Kokubu C, Muramatsu T, Okada S. Molecular heterogeneity of Krabbe disease. J Inherit Metab Dis 1999; 22:155–162.
Verdru P, Lammens M, Dom R, Van Elsen A, Carton H. Globoid cell leukodystrophy: a family with both late-infantile and adult type. Neurology 1991; 41:1382–1384.
Satoh JI, Tokumoto H, Kurohara K, Yukitake M, Matsui M, Kuroda Y, Yamamoto T, Furuya H, Shinnoh N, Kobayashi T, Kukita Y, Hayashi K. Adult-onset Krabbe disease with homozygous T1853C mutation in the galactocerebridase gene. Unusual MRI findings of corticospinal tract demyelination. Neurology 1997; 49:1392–1399.
Barone R, Bruhl K, Stoeter P, Fiumara A, Pavone L, Beck M. Clinical and neuroradiological findings in classic infantile and late-onset globoid-cell leukodystrophy (Krabbe disease). Am J Med Genet 1996; 63:209–217.
Fiumara A, Pavone L, Siciliano L, Tine A, Parano E, Innico G. Late-onset globoid cell leukodystrophy. Report on seven new patients. Childs Nerv Syst 1990; 6:194–197.
Marks HG, Scavina MT, Kolodny EH, Palmieri M, Childs J. Krabbe’s disease presenting as a peripheral neuropathy. Muscle Nerve 1997; 20:1024–1028.
Jardim LB, Guigliani R, Pires RF, Haussen S, Burin MG, Rafi MA, Wenger DA. Protacted course of Krabbe disease in an adult patient bearing a novel mutation. Arch Neurol 1999; 56:1014–1017.
Tada K, Taniike M, Ono J, Tsukamoto H, Inui K, Okada S. Serial magnetic resonance imaging studies in a case of late onset globoid cell leukodystrophy. Neuropediatrics 1992; 23:306–309.
Jones BV, Barron TF, Towfighi J. Optic nerve enlargement in Krabbe’s disease. AJNR Am J Neuroradiol 1999;20:1228–1231.
Loes DJ, Peters C, Krivit W. Globoid cell leukodystrophy: Distinguishing early-onset from late-onset disease using a brain MR imaging scoring method. AJNR Am J Neuroradiol 1999; 20:316–323.
Farina L, Bizzi L., Finocchiaro G., Pareyson D., Sghirlanzoni A., Bertagnolio B., Savoiardo M, Naidu S., Singhal B.S., Wenger DA. MR imaging and proton spectroscopy in adult Krabbe disease. AJNR Am J Neuroradiol 2000; 21:1478–1482.
Turazzini M, Beltramello A, Bassi R, Del Colle R, M. Silvestri M. Adult onset Krabbe’s leukodystrophy: a report of 2 cases. Acta Neurol Scand 1997; 96:413–415.
Epstein MA, Zimmerman RA, Rorke LB, Sladky JT. Lateonset globoid cell leukodystrophy mimicking an infiltrating glioma. Pediatr Radiol 1991; 21:131–132.
Guo AC, Petrella JR, Kurtzberg J, Provenzale JM. Evaluation of white matter anistropy in Krabbe disease with diffusion tensor MR imaging: initial experience. Radiology 2001; 218:809–815.
Zarifi MK, Tzika AA, Astrakas LG, Poussaint TY, Anthony DC, Darras BT. Magnetic resonance spectroscopy and magnetic resonance imaging findings in Krabbe’s disease. J Child Neurol 2001; 16:522–526.
Uyama E, Terasaki T, Watanabe S, Naito M, Owada M, Araki S, Ando M. Type 3 GM1 gangliosidosis: characteristic MRI findings correlated with dystonia. Acta Neurol Scand 1992; 86:609–615.
Campdelacreu J, Munoz E, Gomez B, Pujol T, Chabas A, Tolosa E. Generalised dystonia with an abnormal magnetic resonance imaging signal in the basal ganglia: a case of adult-onset GM1 gangliosidosis. Mov Disord 2002; 17:1095–1097.
Chen CY, Zimmerman RA, Lee CC, Yuh YS, Hsiao HS. Neuroimaging findings in late infantile GM1 gangliosidosis. AJNR Am J Neuroradiol 1998; 19:1628–1630.
Yuksel A, Yalcinkaya C, Islak C, Gunduz E, Seven M. Neuroimaging findings of four patients with Sandhoff disease. Pediatr Neurol 1999; 21:562–565.
Caliskan M, Ozmen M, Beck M, Apak S. Thalamic hyperdensity—is it a diagnostic marker for Sandhoff disease? Brain Dev 1993; 15:387–388.
Fukumizu M, Yoshikawa H, Takashima S, Sakuragawa N, Kurokawa T. Tay-Sachs disease: progression of changes on neuroimaging in four cases. Neuroradiology 1992; 34:483–486.
Beck M, Sieber N, Goebel HH. Progressive cerebellar ataxia in juvenile GM2-gangliosidosis type Sandhoff. Eur J Pediatr 1998; 157:866–867.
Imrie J, Vijayaraghaven S, Whitehouse C, Harris S, Heptinstall L, Church H, Cooper A, Besley N, Wraith JE. Niemann-Pick disease type C in adults. J Inherit Metab Dis 2002; 25:491–500.
Tedeschi G, Bonavita S, Barton NW, Bertolino A, Frank JA, Patronas NJ, Alger JR, Schiffmann R. Proton magnetic resonance spectrsocopic imaging in the clinical evolution of patients with Niemann-Pick type C disease. J Neurol Neurosurg Psychiatry 1998; 65:72–79.
Chang YC, Huang CC, Chen CY, Zimmerman RA. MRI in acute neuropathic Gaucher’s disease. Neuroradiology 2000; 42:48–50.
Shiihara T, Oka A, Suzaki I, Ida H, Takeshita K. Communicating hydrocephalus in a patient with Gaucher’s disease type 3. Pediatr Neurol 2000; 22:234–236.
Hill SC, Parker CC, Brady RO, Barton NW. MRI of multiple platyspondyly in Gaucher disease: response to enzyme replacement therapy. J Comput Assist Tomogr 1993; 17:806–809.
Hermann G, Wagner LD, Gendal ES, Ragland RL, Ulin RI. Spinal cord compression in type I Gaucher disease. Radiology 1989; 170:147–148.
Prows CA, Sanchez N, Daugherty C, Grabowski GA. Gaucher disease: enzyme therapy in the acute neuronopathic variant. Am J Med Genet 1997; 71:16–21.
Tsai FJ, Chen HW, Peng CT, Tsai CH, Hwu WL, Wang TR, Liu SC. Molecular diagnosis of Gaucher disease type II. Chung-Hua Min Kuo Hsiao Erh Ko i Hsueh Hui Tsa Chih 1995; 36:346–350.
Hill SC, Damaska BM, Tsokos M, Kreps C, Brady RO, Barton NW. Radiographic findings in type 3b Gaucher disease. Pediatr Radiol 1996; 26:852–860.
Tiberio G, Filocamo M, Gatti R, Durand P. Mutations in fucosidosis gene: a review. Acta Geneticae Medicae et Gemellologiae 1995; 44:223–232.
Willems PJ, Gatti R, Darby JK, Romeo G, Durand P, Dumon JE, O’Brien JS. Fucosidosis revisited: a review of 77 patients. Am J Med Genet 1991; 38:111–131.
Gordon BA, Gordon KE, Seo HC, Yang M, DiCioccio RA, O’Brien JS. Fucosidosis with dystonia. Neuropediatrics 1995; 26:325–327.
Willems PJ, Garcia CA, De Smedt MC, Martin-Jimenez R, Darby JK, Duenas DA, Granado-Villar D, O’Brien JS. Intrafamilial variability in fucosidosis. Clin Genet 1988; 34:7–14.
Ismail EA, Rudwan M, Shafik MH. Fucosidosis: immunological studies and chronological neuroradiological changes. Acta Paediatr 1999; 88:224–227.
Sovik O, Lie SO, Fluge G, Van Hoof F. Fucosidosis: severe phenotype with survival to adult age. Eur J Pediatr 1980; 135:211–216.
Galluzzi P, Rufa A, Balestri P, Cerase A, Federico A. MR brain imaging of fucosidosis type I. AJNR Am J Neuroradiol 2001; 22:777–780.
Provenzale JM, Barboriak DP, Sims K. Neuroradiologic findings in fucosidosis, a rare lysosomal storage disease. AJNR Am J Neuroradiol 1995; 16(4 Suppl):809–813.
Terespolsky D, Clarke JT, Blaser SI. Evolution of the neuroimaging changes in fucosidosis type II. J Inherit Metab Dis 1996; 19:775–781.
Inui K, Akagi M, Nishigaki T, Muramatsu T, Tsukamoto H, Okada S. A case of chronic infantile type of fucosidosis: clinical and magnetic resonance image findings. Brain Dev 2000; 22:47–49.
Varho T, Jaaskelainen S, Tolonen U, Sonninen P, Vainionpaa L, Aula P, Sillanpaa M. Central and peripheral nervous system dysfunction in the clinical variation of Salla disease. Neurology 2000; 55:99–103.
Biancheri R, Verbeek E, Rossi A, Gaggero R, Roccatagliata L, Gatti R, van Diggelen OP, Verheijen FW, Mancini GM. An Italian severe Salla disease variant associated with SLC17A5 mutation earlier described in infantile sialic acid storage disease. Clin Genet 2002; 61:443–447.
Linnankivi T, Lonnqvist T, Autti T. A case of Salla disease with involvement of the cerebellar white matter. Neuroradiology 2003; 45:107–109.
Varho T, Komu M, Sonninen P, Holopainen I, Nyman S, Manner T, Sillanpaa M, Aula P, Lundbom N. A new metabolite contributing to N-acetyl signal in 1H MRS of the brain in Salla disease (erratum appears in Neurology 1999; 53:1162). Neurology 1999; 52:1668–1672.
van der Knaap MS, Valk J. The MR spectrum of peroxisomal disorders. Neuroradiology 1991; 33:30–37.
Gartner J. Organelle disease: peroxisomal disorders. Eur J Pediatr 2000; 159Suppl 3:S236–S239
FitzPatrick DR. Zellweger syndrome and associated phenotypes. J Med Genet 1996; 33:863–868.
Roscher AA, Hoefler S, Hoefler G, Paschke E, Paltauf F, Moser A, Moser H. Genetic and phenotypic heterogeneity in disorders of peroxisome biogenesis-A complementation study involving cell lines from 19 patients. Pediatr Res 1989; 26:67–72.
Naidu S, Moser H. Infantile Refsum disease. AJNR Am J Neuroradiol 1991; 12:1161–1163.
Al-Essa M, Dhaunsi GV, Rashed MS, Ozand PT, Rahbeeni Z. Zellweger syndrome in Saudi Arabia and its distinct features. Clin Pediatr 1999; 38:77–86.
Kelley RI, Datta NS, Dobyns WB, Hajra AK, Moser AB, Noetzel MJ, Zackai EH, Moser HW. Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes. Am J Med Genet 1986; 23:869–901.
Martin JJ. Neuropathology of peroxisomal diseases. J Inherit Metab Dis 1995; 18Suppl 1:19–33.
Muroi J, Yorifuji T, Uematsu A, Shigematsu Y, Onigata K, Maruyama H, Nobutoki T, Kitamura A, Nakahata T. Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency. Hum Genet 2000; 107:320–326.
Barkovich AJ, Peck WW. MR of Zellweger syndrome. AJNR Am J Neuroradiol 1997; 18:1163–1170.
Nakada Y, Hyakuna N, Suzuki Y, Shimozawa N, Takaesu E, Ikema R, Hirayama K. A case of pseudo-Zellweger syndrome with a possible bifunctional enzyme deficiency but detectable enzyme protein. Comparison of two cases of Zellweger syndrome. Brain Dev 1993; 15:453–456.
Weese-Mayer DE, Smith KM, Reddy JK, Salafsky I, Poznanski AK. Computerized tomography and ultrasound in the diagnosis of cerebro-hepato-renal syndrome of Zellweger. Pediatr Radiol 1987; 17:170–172.
Groenendaal F, Bianchi MC, Battini R, Tosetti M, Boldrini A, de Vries LS, Cioni G. Proton magnetic resonance spectroscopy (1H-MRS) of the cerebrum in two young infants with Zellweger syndrome. Neuropediatrics 2001; 32:23–27.
Bruhn H, Kruse B, Korenke GC, Hanefeld F, Hanicke W, Merboldt KD, Frahm J. Proton NMR spectroscopy of cerebral metabolic alterations in infantile peroxisomal disorders. J Comput Assist Tomogr 1992; 16:335–344.
Aubourg P, Scotto J, Rocchiccioli F, Feldmann-Pautrat D, Robain O. Neonatal adrenoleukodystrophy. J Neurol Neurosurg Psychiatry 1986; 49:77–86.
van der Knaap MS, Valk J. Zellweger cerebrohepatorenal syndrome, neonatal adrenoleukodystrophy. In: van der Knaap MS, Valk J (ed) Magnetic Resonance of Myelin, Myelination and Myelination Disorders. Berlin: Springer, 1995:119–120.
Dubois J, Sebag G, Argyropoulou M, Brunelle F. MR findings in infantile Refsum disease: case report of two family members. AJNR Am J Neuroradiol 1991;12:1159–1160.
Torvik A, Torp S, Kase BF, Ek J, Skjeldal O, Stokke O. Infantile Refsum’s disease: a generalized peroxisomal disorder. Case report with postmortem examination. J Neurol Sci 1988; 85:39–53.
Barth PG, Gootjes J, Bode H, Vreken P, Majoie CB, Wanders RJ. Late onset white matter disease in peroxisome biogenesis disorder. Neurology 2001; 57:1949–1955.
Viola A, Confort-Gouny S, Ranjeva JP, Chabrol B, Raybaud C, Vintila F, Cozzone PJ. MR imaging and MR spectroscopy in rhizomelic chondrodysplasia punctata. AJNR Am J Neuroradiol 2002; 23:480–483.
Williams DW, III, Elster AD, Cox TD. Cranial MR imaging in rhizomelic chondrodysplasia punctata. AJNR Am J Neuroradiol 1991; 12:363–365.
Khanna AJ, Braverman NE, Valle D, Sponseller PD. Cervical stenosis secondary to rhizomelic chondrodysplasia punctata. Am J Med Genet 2001; 99:63–66.
van Geel BM, Bezman L, Loes DJ, Moser HW, Raymond GV. Evolution of phenotypes in adult male patients with X-linked adrenoleukodystrophy. Ann Neurol 2001; 49:186–194.
Ravid S, Diamond AS, Eviatar L. Coma as an acute presentation of adrenoleukodystrophy. Pediatr Neurol 2000; 22:237–239.
Zammarchi E, Donati MA, Tucci F, Fondelli MP, Pazzaglia R. Acute onset of X-linked adrenoleukodystrophy mimicking encephalitis. Brain Dev 1994; 16:238–240.
Riva D, Bova SM, Bruzzone MG. Neurophysiological testing may predict early progression of asymptomatic adrenoleukodystrophy. Neurology 2000; 54:1651–1655.
Barkovich AJ, Ferriero DM, Bass N, Boyer R. Involvement of the pontomedullary corticospinal tracts: a useful finding in the diagnosis of X-linked adrenoleukodystrophy. AJNR Am J Neuroradiol 1997; 18:95–100.
Moser HW, Bezman L, Lu SE, Raymond GV. Therapy of Xlinked adrenoleukodystrophy: prognosis based upon age and MRI abnormality and plans for placebo-controlled trials. J Inherit Metab Dis 2000; 23:273–277.
Morton DH, Bennett MJ, Seargeant LE. Glutaric aciduria type 1: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania. Am J Med Genet 1991; 41:89–95.
Melhem ER, Loes DJ, Georgiades CS, Raymond GV, Moser HW. X-linked adrenoleukodystrophy: the role of contrastenhanced MR imaging in predicting disease progression. AJNR Am J Neuroradiol 2000; 21:839–844.
Cherryman GR, Smith FW. Nuclear magnetic resonance in adrenoleukodystrophy: report of a case. Clinical Radiology 1985; 36:539–540.
Marks HG, Caro PA, Wang ZY, Detre JA, Bogdan AR, Gusnard DA, Zimmerman RA. Use of computed tomography, magnetic resonance imaging, and localized 1H magnetic resonance spectroscopy in Canavan’s disease: a case report. Ann Neurol 1991; 30:106–110.
Schneider J.F.L., Il’yasov KA, Boltshauser E, Hennig J, Martin E. Diffusion tensor imaging in cases of adrenoleukodystrophy: preliminary experience as a marker for early demyelination. AJNR Am J Neuroradiol 2003;24:819–824.
Engelbrecht V, Rassek M, Gartner J, Kahn T, Modder U. The value of new MRI techniques in adrenoleukodystrophy. Pediatr Radiol 1997; 27:207–215.
Kruse B, Barker PB, van Zijl PC, Duyn JH, Moonen CT, Moser HW. Multislice proton magnetic resonance spectroscopic imaging in X-linked adrenoleukodystrophy. Ann Neurol 1994; 36:595–608.
Rajanayagam V, Balthazor M, Shapiro EG, Krivit W, Lockman L, Stillman AE. Proton MR spectroscopy and neuropsychological testing in adrenoleukodystrophy. AJNR Am J Neuroradiol 1997; 18:1909–1914.
Tourbah A, Stievenart JL, Iba-Zizen MT, Lubetzki C, Baumann N, Eymard B, Moser HW, Lyon-Caen O, Cabanis EA. Localized proton magnetic resonance spectroscopy in patients with adult adrenoleukodystrophy. Increase of choline compounds in normal appearing white matter. Arch Neurol 1997; 54:586–592.
Tzika AA, Ball WS Jr, Vigneron DB, Dunn RS, Nelson SJ, Kirks DR. Childhood adrenoleukodystrophy: assessment with proton MR spectroscopy. Radiology 1993; 189:467–480.
Izquierdo M, Adamsbaum C, Benosman A, Aubourg P, Bittoun J. MR spectroscopic imaging of normal-appearing white matter in adrenoleukodystrophy. Pediatr Radiol 2000; 30:621–629.
Lawrenz-Wolf B, Herberg KP, Hoffmann GF, Hunneman DH, Lehnert W, Hanefeld F. Development of brain atrophy, therapy and therapy monitoring in glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency). Klin Padiatr 1993; 205:23–29.
Korenke GC, Pouwels PJ, Frahm J, Hunneman DH, Stoeckler S, Krasemann E, Jost W, Hanefeld F. Arrested cerebral adrenoleukodystrophy: a clinical and proton magnetic resonance spectroscopy study in three patients. Pediatr Neurol 1996; 15:103–107.
van Geel B.M., Assies J, Weverling GJ, Barth PG. Predominance of the adrenomyeloneuropathy phenotype of Xlinked adrenoleukodystrophy in the Netherlands: a survey of 30 kindreds. Neurology 1994; 44:2343–2346.
Bewermeyer H, Bamborschke S, Ebhardt G, Hunermann B, Heiss WD. MR imaging in adrenoleukomyeloneuropathy. J Comput Assist Tomogr 1985; 9:793–796.
Matalon R, Kaul R, Michals K. Canavan disease: biochemical and molecular studies. J Inherit Metab Dis 1993; 16:744–752.
Baslow MH. Molecular water pumps and the aetiology of Canavan disease: A case of the sorcerer’s apprentice. J Inherit Metab Dis 1999; 22:99–101.
Brismar J, Brismar G, Gascon G, Ozand P. Canavan disease: CT and MR imaging of the brain. AJNR Am J Neuroradiol 1990; 11:805–810.
Matalon R, Matalon KM. Canavan disease. Prenatal diagnosis and genetic counseling. Obstet Gynecol Clin N Am 2002; 29:297–304.
Sener RN. Canavan disease: diffusion magnetic resonance imaging findings. J Comput Assist Tomogr 2003; 27:30–33.
Grodd W, Krageloh-Mann I, Petersen D, Trefz FK, Harzer K. In vivo assessement of N-acetylaspartate in brain in spongy degeneration (Canavan’s disease) by proton spectroscopy. Lancet 1990; 336:437–438.
Hamaguchi H, Nihei K, Nakamoto N, Ezoe T, Naito H, Hara M, Yokota K, Inoue Y, Matsumoto I. A case of Canavan disease: the first biochemically proven case in a Japanese girl. Brain Dev 1993; 15:367–371.
Ben Zeev B, Gross V, Kushnir T, Shalev R, Hoffman C, Shinar Y, Pras E, Brand N. Vacuolating megalencephalic leukoencephalopathy in 12 Israeli patients. J Child Neurol 2001; 16:93–99.
Saijo H, Nakayama H, Ezoe T, Araki K, Sone S, Hamaguchi H, Suzuki H, Shiroma N, Kanazawa N, Tsujino S, Hirayama Y, Arima M. A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study. Brain Dev 2003; 25:362–366.
van der Knaap MS, Barth PG, Vrensen GF, Valk J. Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course. Acta Neuropathol 1996; 92:206–212.
Sener RN. van der Knaap syndrome: MR imaging findings including FLAIR, diffusion imaging, and proton MR spectroscopy. Eur Radiol 2000; 10:1452–1455.
Biancheri R, Pisaturo C, Perrone MV, Pessagno A, Rossi A, Veneselli E. Presence of delayed myelination and macrocephaly in the sister of a patient with vacuolating leukoencephalopathy with subcortical cysts. Neuropediatrics 2000; 31:321–324.
Haworth JC, Booth FA, Chudley AE, de Groot GW, Dilling LA, Goodman SI, Greenberg CR, Mallory CJ, McClarty BM, Seshia SS, et al. Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian Indian kindreds. J Pediatr 1991; 118:52–58.
Hanefeld F, Holzbach U, Kruse B, Wilichowski E, Christen HJ, Frahm J. Diffuse white matter disease in three children: an encephalopathy with unique features on magnetic resonance imaging and proton magnetic resonance spectroscopy. Neuropediatrics 1993; 24:244–248.
Leegwater PA, Konst AA, Kuyt B, Sandkuijl LA, Naidu S, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS. The gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27. Am J Hum Genet 1999; 65:728–734.
Leegwater PA, Vermeulen G, Konst AA, Naidu S, Mulders J, Visser A, Kersbergen P, Mobach D, Fonds D, van Berkel CG, Lemmers RJ, Frants RR, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS. Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. Nat Genet 2001; 29:383–388.
van der Knaap MS, Leegwater PA, Konst AA, Visser A, Naidu S, Oudejans CB, Schutgens RB, Pronk JC. Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. Ann Neurol 2002; 51:264–270.
Fogli A, Dionisi-Vici C, Deodato F, Bartuli A, Boespflug-Tanguy O, Bertini E. A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation. Neurology 2002; 59:1966–1968.
Francalanci P, Eymard-Pierre E, Dionisi-Vici C, Boldrini R, Piemonte F, Virgili R, Fariello G, Bosman C, Santorelli FM, Boespflug-Tanguy O, Bertini E. Fatal infantile leukodystrophy: a severe variant of CACH/VWM syndrome, allelic to chromosome 3q27. Neurology 2001; 57:265–270.
Prass K, Bruck W, Schroder NW, Bender A, Prass M, Wolf T, van der Knaap MS, Zschenderlein R. Adult-onset leukoencephalopathy with vanishing white matter presenting with dementia. Ann Neurol 2001; 50:665–668.
Biancheri R, Rossi A, Di Rocco M, Filocamo M, Pronk JC, Van Der Knaap MS, Tortori-Donati P. Leukoencephalopathy with vanishing white matter: an adult onset case. Neurology 2003; 61:1818–1819.
van der Knaap MS, Wevers RA, Kure S, Gabreels FJ, Verhoeven NM, Raaij-Selten B, Jaeken J. Increased cerebrospinal fluid glycine: a biochemical marker for a leukoencephalopathy with vanishing white matter. J Child Neurol 1999; 14:728–731.
Stumpf E, Masson H, Duquette A, Berthelet F, McNabb J, Lortie A, Lesage J, Montplaisir J, Brais B, Cossette P. Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene. Arch Neurol 2003; 60:1307–1312.
Gingold MK, Bodensteiner JB, Schochet SS, Jaynes M. Alexander’s disease: unique presentation. J Child Neurol 1999; 14:325–329.
Goutieres F, Aicardi J, Barth PG, Lebon P. Aicardi-Goutieres syndrome: an update and results of interferon-alpha studies. Ann Neurol 1998; 44:900–907.
Kato M, Ishii R, Honma A, Ikeda H, Hayasaka K. Brainstem lesion in Aicardi-Goutieres syndrome. Pediatr Neurol 1998; 19:145–147.
Polizzi A, Pavone P, Parano E, Incorpora G, Ruggieri M. Lack of progression of brain atrophy in Aicardi-Goutieres syndrome. Pediatr Neurol 2001; 24:300–302.
Nishio H, Kodama S, Matsuo T, Ichihashi M, Ito H, Fujiwara Y. Cockayne syndrome: magnetic resonance images of the brain in a severe form with early onset. J Inherit Metab Dis 1988; 11:88–102.
Boltshauser E, Yalcinkaya C, Wichmann W, Reutter F, Prader A, Valavanis A. MRI in Cockayne syndrome type I. Neuroradiology 1989; 31:276–277.
Dabbagh O, Swaiman KF. Cockayne syndrome: MRI correlates of hypomyelination. Pediatr Neurol 1988; 4:113–116.
van der Knaap MS, Valk J. The reflection of histology in MR imaging of Pelizaeus-Merzbacher disease. AJNR Am J Neuroradiol 1989; 10:99–103.
Ono J, Harada K, Mano T, Sakurai K, Okada S. Differentiation of dys-and demyelination using diffusional anisotropy. Pediatr Neurol 1997; 16:63–66.
Schulze A, Hess T, Wevers R, Mayatepek E, Bachert P, Marescau B, Knopp MV, De Deyn PP, Bremer HJ, Rating D. Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism. J Pediatr 1997; 131:626–631.
van der Knaap MS, Verhoeven NM, Maaswinkel-Mooij P, Pouwels PJW, Onkenhout W, Peeters WAJ, Stockler-Ipsiroglu S, Jakobs C. Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect. Ann Neurol 2000; 47:540–543.
Battini R, Leuzzi V, Carducci C, Tosetti M, Bianchi MC, Item CB, Stockler-Ipsiroglu S, Cioni G. Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree. Mol Genet Metab 2002; 77:326–331.
Cecil KM, Salomons GS, Ball WS Jr, Wong B, Chuck G, Verhoeven NM, Jakobs C, DeGrauw TJ. Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect? Ann Neurol 2001; 49:401–404.
Stöckler S, Holzbach U, Hanefeld F, Marquardt I, Helms G, Requart M, Hanicke W, Frahm J. Creatine deficiency in the brain: a new, treatable inborn error of metabolism. Pediatr Res 1994; 36:409–413.
Schulze A, Bachert P, Schlemmer H, Harting I, Polster T, Salomons GS, Verhoeven NM, Jakobs C, Fowler B, Hoffmann GF, Mayatepek E. Lack of creatine in muscle and brain in an adult with GAMT deficiency. Ann Neurol 2003; 53:248–251.
van der Knaap MS, Wevers RA, Struys EA, Verhoeven NM, Pouwels PJ, Engelke UF, Feikema W, Valk J, Jakobs C. Leukoencephalopathy associated with a disturbance in the metabolism of polyols. Ann Neurol 1999; 46:925–928.
Verhoeven NM, Huck JH, Roos B, Struys EA, Salomons GS, Douwes AC, van der Knaap MS, Jakobs C. Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway. Am J Hum Genet 2001; 68:1086–1092.
Dabbagh O, Brismar J, Gascon GG, Ozand PT. The clinical spectrum of biotin-treatbale encephalopathies in Saudi Arabia. Brain Dev 1994; 16Suppl:72–80.
Ozand PT, Gascon GG, Al-Essa M, Joshi S, Al Jishi E, Bakheet S, Al Watban J, Al Kawi MZ, Dabbagh O. Biotin-responsive basal ganglia disease: a novel entity. Brain 1998; 121:1267–1279.
Mardach R, Zempleni J, Wolf B, Cannon MJ, Jennings ML, Cress S, Boylan J, Roth S, Cederbaum S, Mock DM. Biotin dependency due to a defect in biotin transport. J Clin Invest 2002; 109:1617–1623.
Verrips A, Hoefsloot LH, Steenbergen GCH, Theelen JP, Wevers RA, Gabreels FJM, van Engelen BGM, van der Heuvel PWJ. Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. Brain 2000; 123:908–919.
Verrips A, Nijeholt L, Barkhof F, an Engelen BGM, Wesseling P, Luyten JAFM, Wevers R, Stam J, Wokke JHJ, van der Heuvel LPWJ, Keyser A, Gabreels FJM. Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis. Brain 1999; 122:1589–1595.
Barkhof F, Verrips A, Wesseling P, Der Knaap MS, van Engelen BG, Gabreels FJ, Keyser A, Wevers RA, Valk J. Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings. Radiology 2000; 217:869–876.
De Stefano N, Dotti MT, Mortilla M, Federico A. Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis. Brain 2001; 124:121–131.
Vanrietvelde F, Lemmerling M, Mespreuve M, Crevits L, De Reuck J, Kunnen M. MRI of the brain in cerebrotendinous xanthomatosis (van Bogaert-Scherer-Epstein disease). Eur Radiol 2000; 10:576–578.
Rizzo WB, Craft DA. Sjögren-Larsson syndrom. Deficient activity of the fatty aldehyde dehydrogenase component of fatty alcohol: NAD+ oxidoreductase in cultured fibroblasts. J Clin Invest 1 1991; 88:1643–1648.
Di Rocco M, Filocamo M, Tortori-Donati P, Veneselli E, Borrone C, Rizzo WB. Sjogren-Larsson syndrome: nuclear magnetic resonance imaging of the brain in a 4-year-old boy. J Inherit Metab Dis 1994; 17:112–114.
Van Mieghem F, Van Goethem JW, Parizel PM, van den Hauwe L, Cras P, De Meirleire J, De Schepper AM. MR of the brain in Sjogren-Larsson syndrome. AJNR Am J Neuroradiol 1997; 18:1561–1563.
Miyanomae Y, Ochi M, Yoshioka H, Takaya K, Kizaki Z, Inoue F, Furuya S, Naruse S. Cerebral MRI and spectroscopy in Sjogren-Larsson syndrome: case report. Neuroradiology. 1995; 37:225–228.
Mano T, Ono J, Kaminaga T, Imai K, Sakurai K, Harada K, Nagai T, Rizzo WB, Okada S. Proton MR spectroscopy of Sjogren-Larsson’s syndrome. AJNR Am J Neuroradiol 1999; 20:1671–1673.
van Domburg PH, Willemsen MA, Rotteveel JJ, de Jong JG, Thijssen HO, Heerschap A, Cruysberg JR, Wanders RJ, Gabreels FJ, Steijlen PM. Sjogren-Larsson syndrome: clinical and MRI/MRS findings in FALDH-deficient patients. Neurology 1999; 52:1345–1352.
Author information
Authors and Affiliations
Rights and permissions
Copyright information
© 2005 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Patay, Z. (2005). Metabolic Disorders. In: Pediatric Neuroradiology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/3-540-26398-5_13
Download citation
DOI: https://doi.org/10.1007/3-540-26398-5_13
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-41077-5
Online ISBN: 978-3-540-26398-2
eBook Packages: MedicineMedicine (R0)