Keywords
Newborn Screening Maple Syrup Urine Disease Maple Syrup Urine Disease Organic Aciduria Methylmalonic Aciduria
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
References
- 1.Fariello G, Dionisi-Vici C, Orazi C et al. (1996) Cranial ultrasonography in maple syrup urine disease. Am J Neuroradiol 17:311–315Google Scholar
- 2.Morton DH, Strauss KA, Robinson DL et al. (2002) Diagnosis and treatment of maple syrup urine disease: a study of 36 patients. Pediatrics 109:999–1008Google Scholar
- 3.Schoenberger S, Schweiger B, Schwahn B et al. (2004) Dysmyelination in the brain of adolescents and young adults with maple syrup urine disease. Mol Genet Metab 82:69–75Google Scholar
- 4.Kleopa KA, Raizen DM, Friedrich CA, Brown MJ, Bird SJ (2001) Acute axonal neuropathy in maple syrup urine disease. Muscle Nerve 24:284–287Google Scholar
- 5.Brismar J, Ozand PT (1994) CT and MR of the brain in disorders of the propionate and methylmalonate metabolism. Am J Neuroradiol 15:1459–1473Google Scholar
- 6.Chemelli AP, Schocke M, Sperl W et al. (2000) Magnetic resonance spectroscopy (MRS) in five patients with treated propionic acidemia. J Magn Reson Imaging 11:596–600Google Scholar
- 7.Williams ZR, Hurley PE, Altiparmark UE et al. (2009) Late onset optic neuropathy in methylmalonic and propionic acidemia. Am J Ophthalmol 147: 929–933Google Scholar
- 8.Dejean de la Bâtie C, Barbier V, Valayannopoulos V et al. (2014) Acute psychosis in propionic acidemia: 2 case reports. J Child Neurol 29:274–279Google Scholar
- 9.Hörster F, Garbade SF, Zwickler T et al. (2009) Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters. J Inherit Metab Dis 32:630–639Google Scholar
- 10.Rutledge SL, Geraghty M, Mroczek E et al. (1993) Tubulointerstitial nephritis in methylmalonic acidemia. Pediatr Nephrol 7:81–82Google Scholar
- 11.Leonard JV (1995) The management and outcome of propionic and methylmalonic acidaemia. J Inherit Metab Dis 18:430–434Google Scholar
- 12.Baumgartner MR, Hörster F, Dionisi-Vici C et al. (2014) Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis 9:130Google Scholar
- 13.Lane TN, Spraker MK, Parker SS (2007) Propionic acidemia manifesting with low isoleucine generalized exfoliative dermatosis. Pediatr Dermatol 24:508–510Google Scholar
- 14.Gilmore A, Bock H-G, Nowicki M (2008) Hyperamylasemia/hyperlipasemia in a child with propionic acidemia. Am J Med Genet A 146A:3090–3091Google Scholar
- 15.Romano S, Valayannopoulos V, Touati G et al. (2010) Cardiomyopathies in propionic aciduria are reversible after liver transplantation. J Pediatr 156:128–134Google Scholar
- 16.Baumgartner D, Schöll-Burgi S, Sass JO et al. (2007) Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia. J Pediatr 150:192–197Google Scholar
- 17.Sato S, Kasahara M, Fukuda A et al. (2009) Liver transplantation in a patient with propionic acidemia requiring extracorporeal membrane oxygenation during severe metabolic decompensation. Pediatr Transplant 13:790–793Google Scholar
- 18.Oyarzabal A, Martínez-Pardo M, Merinero B et al. (2013) A novel regulatory defect in the branched-chain α-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease. Hum Mutat 34:355–362Google Scholar
- 19.Novarino G, El-Fishawy P, Kayserili H et al. (2012) Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science 338:394–397Google Scholar
- 20.Mayr JA, Feichtinger RG, Tort F et al. (2014) Lipoic acid biosynthesis defects. J Inherit Metab Dis 37:553–563Google Scholar
- 21.Morath MA, Okun JG, Müller IB et al. (2008) Neurodegeneration and chronic renal failure in methylmalonic aciduria a pathophysiological approach. J Inherit Metab Dis 31:35–43Google Scholar
- 22.Sbai D, Narcy C, Thompson GN et al. (1994) Contribution of odd-chain fatty acid oxidation to propionate production in disorders of propionate metabolism. Am J Nutr 59:1332–1337Google Scholar
- 23.Leonard JV (1996) Stable isotope studies in propionic and methylmalonic acidaemia. Eur J Pediatr 156:S67–S69Google Scholar
- 24.Aevarsson A, Chuang JL, Wynn RM et al. (2000) Crystal structure of human branched-chain α-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease. Structure 8:277–291Google Scholar
- 25.Ensenauer R, Vockley J, Willard JM et al. ( 2004) A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. Am J Hum Genet 75:1136–1142Google Scholar
- 26.Perez B, Desviat LR, Rodriguez-Pombo P et al. (2003) Propionic acidemia: identification of twenty–four novel mutations in Europe and North America. Mol Genet Metab 78:59–67Google Scholar
- 27.Yorifuji T, Kawai M, Muroi J et al. (2002) Unexpectedly high prevalance of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications. Hum Genet 111:161–165Google Scholar
- 28.Forny P, Schnellmann AS, Buerer C et al. (2016) Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT. Hum Mutat 37:745-54Google Scholar
- 29.Carrozzo R, Verrigni D, Rasmussen M et al. (2016) Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients. J Inherit Metab Dis 39:243–252Google Scholar
- 30.Bikker H, Bakker HD, Abeling NG et al. (2006) A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria. Hum Mutat 27:640–643Google Scholar
- 31.Dobson MC, Gradinger A, Longo N et al. (2006) Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria. Mol Genet Metab 88:327–333Google Scholar
- 32.Filipowicz HR, Ernst SL, Ashurst CL, Pasquali M, Longo N (2006) Metabolic changes associated with hyperammonemia in patients with propionic acidemia. Mol Genet Metab 88:123–130Google Scholar
- 33.Kölker S, Cazorla AG, Valayannopoulos V et al. (2015) The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J Inherit Metab Dis 38:1041–57Google Scholar
- 34.Wilcken B, Wiley V, Hammond J, Carpenter K (2003) Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N Engl J Med 348:2304–2312Google Scholar
- 35.Schulze A, Lindner M, Kohlmüller D et al. (2003) Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics 111:1399–1406Google Scholar
- 36.MacDonald A, Dixon M, White F (2008) Disorders of amino acid metabolism, organic acidemias and urea cycle defects. In: Shaw V, Lawson M (eds) Clinical paediatric dietetics, 3rd edn. Blackwell, Oxford, UK, chap 17Google Scholar
- 37.Touati G, Valayannopoulos V, Mention K et al. (2006) Methylmalonic and propionic acidurias: management without or with a few supplements of specific amino acid mixtures. J Inherit Metab Dis 29:288–299Google Scholar
- 38.Puliyanda DP, Harmon WE, Peterschmitt MJ, Irons M, Somers MJ (2002) Utility of hemodialysis in maple syrup urine disease. Pediatr Nephrol 17:239–242Google Scholar
- 39.Strauss KA, Wardley B, Robinson D et al. (2010) Classical maple syrup urine disease and brain development: principles of management and formula design. Mol Genet Metab 99:333–345Google Scholar
- 40.Servais A, Arnoux JB, Lamy C et al. (2013) Treatment of acute decompensation of maple syrup urine disease in adult patients with a new parenteral amino-acid mixture. J Inherit Metab Dis 36:939–944Google Scholar
- 41.Heiber S, Zulewski H, Zaugg M, Kiss C, Baumgartner M (2015). Successful Pregnancy in a woman with Maple Syrup Urine Disease: Case Report. JIMD Rep 21:103–107Google Scholar
- 42.Strauss KA, Mazariegos GV, Sindhi R et al. (2006) Elective liver transplantation for the treatment of classical maple syrup urine disease. Am J Transplant 6:557–564Google Scholar
- 43.Khanna A, Hart M, Nyhan WL et al. (2006) Domino liver transplantation in maple syrup urine disease. Liver Transplant 12:876–882Google Scholar
- 44.Mazariegos GV, Morton DH, Sindhi R et al. (2012) Liver transplantation for classical maple syrup urine disease: long-term follow-up in 37 patients and comparative United Network for Organ Sharing experience. J Pediatr 160:116–121Google Scholar
- 45.Hilliges C, Awiszus D, Wendel U (1993) Intellectual performance of children with maple urine disease. Eur J Pediatr 152:144–147Google Scholar
- 46.Hoffmann B, Helbling C, Schadewaldt P, Wendel U (2006) Impact of longitudinal plasma leucine levels in the intellectual outcome in patients with classic MSUD. Pediatr Res 59:17–20Google Scholar
- 47.Kasapkara CS, Ezgu FS, Okur I et al. (2011) N-carbamylglutamate treatment for acute neonatal hyperammonemia in isovaleric acidemia. Eur J Pediatr 170:799–801Google Scholar
- 48.Fries MH, Rinaldo P, Schmidt-Sommerfeld E et al. (1996) Isovaleric acidemia: response to a leucine load after three weeks of supplementation with glycine, l-carnitine, and combined glycine-carnitine therapy. J Pediatr 129:449–452Google Scholar
- 49.Vockley J, Ensenauer R (2006) Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity. Am J Med Genet C Semin Med Genet 142:95–103Google Scholar
- 50.Habets DD, Schaper NC, Rogozinski H et al. (2012) Biochemical Monitoring and Management During Pregnancy in Patients with Isovaleric Acidaemia is Helpful to Prevent Metabolic Decompensation. JIMD Rep 3:83–89Google Scholar
- 51.Picca S, Dionisi-Vici C, Abeni D et al. (2001) Extracorporeal dialysis in neonatal hyperammonemia: modalities and prognostic indicators. Pediatr Nephrol 16:862–867Google Scholar
- 52.Filippi L, Gozzimi E, Fiorini et al. (2010) N-Carbamoylglutamate in emergency management of hyperammonemia in neonatal onset propionic and methylmalonic aciduria. Neonatology 97:286–290Google Scholar
- 53.Matern D, Seydewitz, HH, Lehnert W et al. (1996) Primary treatment of propionic acidemia complicated by acute thiamine deficiency. J Pediatr 129:758–760Google Scholar
- 54.Touati G, Ogier de Baulny H, Rabier D et al. (2003) Beneficial effects of growth hormone treatment in children with methylmalonic and propionic acidurias (abstract). J Inherit Metab Dis 26:40Google Scholar
- 55.Baumgartner ER, Viardot C (1995) Long–term follow-up of 77 patients with isolated methylmalonic acidaemia. J Inherit Metab Dis 18:138–142Google Scholar
- 56.De Baulny HO, Benoist JF, Rigal O et al. (2005) Methylmalonic and propionic acidemias: management and outcome. J Inherit Metab Dis 28:415–423Google Scholar
- 57.Dionisi Vici C, Deodato F, Roschinger W et al. (2006) »Classical« organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry. J Inherit Metab Dis 29:383–389Google Scholar
- 58.Grünert SC, Mullerleile S, De Silva L et al. (2013) Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. Orphanet J Rare Dis 8:6Google Scholar
- 59.Nizon M, Ottolenghi C, Valayannopoulos V et al. (2013). Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias. Orphanet J Rare Dis 8:148Google Scholar
- 60.Brassier A, Boyer O, Valayannopoulos V et al. (2013). Renal transplantation in 4 patients with methylmalonic aciduria: a cell therapy for metabolic disease. Mol Genet Metab 110:106–110Google Scholar
- 61.Raval DB, Merideth M, Sloan JL, et al. (2015) Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review. J Inherit Metab Dis 38:839–846Google Scholar
- 62.Niemi AK, Kim IK, Krueger CE, et al. (2015) Treatment of methylmalonic acidemia by liver or combined liver-kidney transplantation. J Pediatr 166:1455–1461Google Scholar
- 63.Kasahara M, Horikawa R, Tagawa M et al. (2006) Current role of liver transplantation for methylmalonic acidemai: a review of literature. Pediatr Transplant 10: 943–947Google Scholar
- 64.Spada M, Calvo PL, Brunati A et al. (2015) Liver transplantation in severe methylmalonic acidemia: The sooner, the better. J Pediatr S0022–3476(15)00878-1Google Scholar
- 65.Spada M, Calvo PL, Brunati A et al. (2015) Early Liver Transplantation for Neonatal-Onset Methylmalonic Acidemia. Pediatrics 136:e252–256Google Scholar
- 66.Kasahara M, Sakamoto S, Kanazawa H et al. (2012) Living-donor liver transplantation for propionic acidemia. Pediatr Transplant 16:230–234Google Scholar
- 67.Barshes NR, Vanatta , Patel AJ et al. (2006) Evaluation and management of patients with propionic acidemia undergoing liver transplantation: a comprehensive review. Pediatr Transplant 10:773–778Google Scholar
- 68.Charbit-Henrion F, Lacaille F, McKiernan P et al. (2015) Early and late complications after liver transplantation for propionic acidemia in children: a two centers study. Am J Transplant 15:786–791Google Scholar
- 69.Kahler SG, Millington DS, Cederbaum SD et al. (1989) Parenteral nutrition in propionic and methylmalonic acidemia. J Pediatr 115:235–241Google Scholar
- 70.Grünert SC, Stucki M, Morscher RJ et al. (2012) 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. Orphanet J Rare Dis 7:31Google Scholar
- 71.Shepard PJ, Barshop BA, Baumgartner MR et al. (2015) Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. Genet Med 17:660–667Google Scholar
- 72.Stucki M, Suormala T, Fowler B, Valle D, Baumgartner MR (2009) Cryptic exon activation by disruption exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency. J Biol Chem 284:28953–28957Google Scholar
- 73.Thomsen JA, Lund AM, Olesen JH et al. (2015) Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency? JIMD Rep 21:79–88Google Scholar
- 74.Wilcken B (2016) 3-Methylcrotonyl-CoA carboxylase deficiency: to screen or not to screen?JIMD 39:171–172Google Scholar
- 75.Wortmann SB, Kluijtmans LA, Rodenburg RJ et al. (2013) 3-Methylglutaconic aciduria-lessons from 50 genes and 977 patients. J Inherit Metab Dis 36:913–921Google Scholar
- 76.Wortmann SB, Ziętkiewicz S, Kousi M et al. (2015) CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am J Hum Genet 96:245–257Google Scholar
- 77.Sass JO, Ensenauer R, Röschinger W et al. (2008) 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism. Mol Genet Metab 93:30–35Google Scholar
- 78.Fukao T, Akiba K, Goto M et al. (2014) The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation. J Hum Genet 59:609–614Google Scholar
- 79.Garcia-Villoria J, Navarro-Sastre A, Fons C et al. (2009) Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis. Clin Biochem 42:27–33Google Scholar
- 80.Yang SY, He XY, Miller D (2007) HSD17B10: a gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids. Mol Genet Metab 92:36–42Google Scholar
- 81.Pedersen CB, Bischoff C, Christensen E et al. (2006) Variations in IBD (ACAD8) in children with elevated C4-acylcarnitine detected by tandem mass spectrometry newborn screening. Pediatr Res 60:315–320Google Scholar
- 82.Oglesbee D, He M, Majumber N et al. (2007) Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. Genet Med 9:108–116Google Scholar
- 83.Chambliss KL, Gray RG, Rylance G et al. (2000) Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency. J Inherit Metab Dis 23 497–504Google Scholar
- 84.Brown GK, Huint SM, Scholem R et al. (1982) Hydroxyisobutyryl-coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations. Pediatrics 70:532–538Google Scholar
- 85.Sass JO, Walter M, Shield JP et al. (2012) 3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase. J Inherit Metab Dis 35:437–442Google Scholar
- 86.Ferdinandusse S, Waterham HR, Heales SJ et al. (2013) HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase. Orphanet J Rare Dis 8:188Google Scholar
- 87.Salomons GS, Jakobs C, Landegge Pope L et al. (2007) Clinical, enzymatic and molecular characterization of nine new patients with malonyl- coenzyme A decarboxylase deficiency. J Inherit Metab Dis 30: 23–28Google Scholar
- 88.Footitt EJ, Stafford J, Dixon M et al. (2010) Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy. J Inherit Metab Dis 33 Suppl 3:S253–256Google Scholar
- 89.Sloan JL, Johnston JJ, Manoli I et al. (2011) Exome sequencing identifies ACSF 3 as a cause of combined malonic and methylmalonic aciduria. Nature Genetics 43:883–886Google Scholar
- 90.Alfares A, Nunez LD, Al-Thihli K et al. (2011) Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype. J Med Genet 48:602–605Google Scholar
- 91.Levtova A, Waters PJ, Buhas D et al. (2015) ACSF3 deficiency (CMAMMA) is probably a benign condition. J Inherit Metab Dis 38:S46–47Google Scholar
- 92.Peters H, Buck N, Wanders R et al. (2014) ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism. Brain 137:2903–2908Google Scholar
- 93.Haack TB, Jackson CB, Murayama K et al. (2015) Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. Ann Clin Transl Neurol 2:492–509Google Scholar
Copyright information
© Springer-Verlag Berlin Heidelberg 2016