Abstract
Inborn errors of metabolism make a considerable contribution to the morbidity and mortality of children in a Western population (Raine 1974), since there are so many different disorders, albeit each with a low incidence. Inherited biochemical defects have been reported for many groups of compounds including carbohydrates, amino acids, purines and pyrimidines, trace metals, lipids and mucopolysaccharides. The onset of clinical symptoms may not become apparent until adult life, but this is unusual, the majority appearing during childhood and frequently in the first few days of life.
Keywords
- Branch Chain Amino Acid
- Congenital Hypothyroidism
- Maple Syrup Urine Disease
- Urea Cycle Disorder
- Neonatal Hypothyroidism
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.
This is a preview of subscription content, log in via an institution.
Buying options
Tax calculation will be finalised at checkout
Purchases are for personal use only
Learn about institutional subscriptionsPreview
Unable to display preview. Download preview PDF.
References
Aleck KA, Shapiro LJ (1978) Genetic-metabolic considerations in the sick neonate. Pediatr Clin North Am 25: 431–451
Anonymous (1980) Dietary promise for PKU patients. Medical Research Council News, No. 8, p 3
Baerlocher K, Gitzelmann R, Steinmann B (1980) Clinical and genetic studies of disorders in fructose metabolism. In: Burman D, Holton J B, Pennock C A (eds). Inherited disorders of carbohydrate metabolism. MTP, Lancaster, pp 163–190
Baker L, Winegrad AI (1970) Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity. Lancet ii: 13–16
Batshaw ML, Thomas G H, Brusilow SW (1981) New approaches to the diagnosis and treatment of inborn errors of urea synthesis. Pediatrics 68: 290–297
Bickel H (ed) (1981) Maternal phenylketonuria—an International workshop held in Frankfurt/Main April 22, 1980. Pentadruck, Eppingen
Brenton D P, Cusworth D C, Garrod P et al. (1980) Maternal phenylketonuria treated by diet before conception. Paper presented to the British Paediatric Association, York, April 15–19, 1980. (Abstract published in Archives of Disease in Childhood.)
Brusilow SWT, Batshaw ML (1979) Arginine therapy of argininosuccinase deficiency. Lancet i: 124–127
Butler I J, Koslow S H, Krumholz A, Holtzman N A, Kaurman S (1978) A disorder of biogenic amines in dihydropteridine reductase deficiency. Ann Neurol 3: 224–230
Chalmers R A, Lawson A M (1982) Organic acids in man. Chapman and Hall, London
Chalmers RA, Purkiss P, Watts RWE, Lawson AM (1980) Screening for organic acidurias and aminoacidopathies in newborns and children. J Inher Metabol Dis 3: 27–43
Clayton BE (1975) The principles of treatment by dietary restriction as illustrated by phenylketonuria. In: Raine D N (ed) The treatment of inherited metabolic disease. Medical and Technical Publishing, Lancaster, pp 1–32
Comar D, Saudubray JM, Duthilleul A etal. (1981) Brain uptake of 11C-methionine in phenylketonuria. Europ J Pediatr 136: 13–19
Curtius H C, Niederwieser A, Viscontini M et al. (1979) Atypical phenylketonuria due to tetrahydrobiopterin deficiency. Diagnosis and treatment with tetrahydrobiopterin, dihydrobiopterin and sepiapterin. Clin Chim Acta 93: 251–262
Dancis J, Hutzler B S, Snyderman S E, Cox R P (1972) Enzyme activity in classical and variant forms of maple syrup urine disease. J Pediatr 81: 312–320
Danks DM, Cotton RGH (1980) Early diagnosis of hyper-phenylalaninaemia due to tetrahydrobiopterin deficiency (malignant hyperphenylalaninaemia). Pediatr 96: 854–856
Danks D M, Campbell P E, Stevens B J, Mayne V, Cartwright E (1972) Menkes’s kinky hair syndrome. An inherited defect in copper absorption with widespread effects. Pediatrics 50:188–201
Danks D M, Bartholomie K, Clayton B E et al. (1978) Malignant hyperphenylalaninaemia—current status (June 1977) J Inher Metabol Dis 1: 49–53
Department of Health and Social Security, National Health Service (1969) Screening for early detection of phenylketonuria. HM(69)72, HMSO, London
Department of Health and Social Security (1974) Present day practice in infant feeding. Reports on Health and Social Subjects, No. 9. HMSO, London
Dussault J H, Coulombe P, Laberge C et al. (1975) Preliminary report on a mass screening program for neonatal hypothyroidism. J Pediatr 86: 670–674
Fernandes J (1980) Hepatic glycogenosis: diagnosis and management. In: Burman D, Holton J B, Pennock C A (eds) Inherited disorders of carbohydrate metabolism. MTP, Lancaster, pp 297–312
Fisher D A, Dussault J H, Foley T R P Jr et al. (1979) Screening for congenital hypothyroidism: results of screening one million North American infants. J Pediatr 94: 700–705
Fishler K, Koch R, Donnell G N, Wenz E (1980) Developmental aspects of galactosaemia from infancy to childhood. Clin Pediatr 19: 38–44
Francis DEM (1975) Diets for sick children, 3rd edn. Blackwell Scientific, Oxford
Gibbs K, Hanka R, Walshe J M (1978) The urinary excretion of radiocopper in presymptomatic and symptomatic Wilson’s disease, heterozygotes and controls: Its significance in diagnosis and management. Q J Med 47: 349–364
Gitzelmann R, Hansen RG (1980) Galactose metabolism, hereditary defects and their clinical significance. In: Burman D, Holton J B, Pennock C A (eds) Inherited disorders of carbohydrate metabolism. MTP, Lancaster, pp 61–101
Greene H L, Slonim A E, Burr I M, Moran J R (1980). Type 1 glycogen storage disease: five years of management with nocturnal intragastric feeding. J Pediatr 96: 590–595
Guthrie R (1961) Blood screening for phenylketonuria (Letter). JAMA 178: 863
Güttler F (1980) Hyperphenylalaninaemia. Acta Pediatr Scand [Suppl 280]
Hall G A, Howell J M C (1973) Lesions produced by copper deficiency in neonate and older rats. Br J Nutr 29: 95–104
Hulse J A, Grant D B, Clayton B E et al. (1980) Population screening for congenital hypothyroidism. Br Med J 1: 675–678
Kaufman S (1978) The enzymes for the hepatic phenylalanine hydroxylating system. J Inher Metabol Dis 1: 63–65.
Kaufman S (1980) Differential diagnosis of variant forms of hyperphenylalaninaemia. Pediatrics 65: 840–842
Komrower G M, Sardharwalla IB, Coutts J M J, Ingham D (1979) Management of maternal phenylketonuria: an emerging clinical problem. Br Med J i: 1383–1387
Leonard J V, Dunger D B (1978) Hypoglycaemia complicating feeding regimes for glycogen storage disorders. Lancet ii: 1203–1204
Leonard J V, Seakins, J W T, Bartlett K et al. (1981) The clinical spectrum of inherited disorders of 3-methyl crotonyl CoA carboxylation. Arch Dis Child 56: 53–59
Lévy H L, Sépe S J, Shih V E, Gordon F V, Klein J O (1977) Sepsis due to Escherichia coli in neonates with galactosaemia. N Engl J Med 297: 823–827
Lott I T, Dipaola R, Raghavan S S et al. (1979) Abnormal copper metabolism in Menkes’ steely-hair syndrome. Pediatr Res 13: 845–150
Menkes JH, Hurst PL, Craig JM (1954) New syndrome. Progressive familial infantile cerebral dysfunction associated with an unusual urinary substance. Pediatrics 14: 462–466
Menkes J H, Alter M, Steigleder G K, Weakley D R, Sung J H (1962) A sex-linked recessive disorder with retardation of growth, peculiar hair and focal cerebral and cerebellar degeneration. Pediatrics 29: 764–779
Miles J H, Kaback M M (1978) Prenatal diagnosis of hereditary disorders. Pediatr Clin North Am 25: 593–618
Mudd SH, Finkelstein J D, Irreverre F, Laster L (1964) Homocystinuria: an enzymatic defect. Science 143: 1443–1445
Nielsen K B, Wamberg E, Weber J (1979) Successful outcome of pregnancy to Phenylketonurie woman after low-phenylalanine diet introduced before conception. Lancet i: 1245
O’Brien D, Berlow S, Donnel G et al. (1980) New developments in hyperphenylalaninaemia. Pediatrics 65: 844–846
Perman JA, Westlin S L, Grand RJ, Watling JR (1979) Laboratory measures of copper metabolism in the differentiation of chronic active hepatitis and Wilson’s disease in children. J Pediatr 94: 564–568
Raine DN (1974) The need for a national policy for the management of inherited metabolic disease. J Clin Pathol 27: [Suppl 8] 156–163
Roche-Sicot J, Benhamon J P (1977) Acute, intravascular haemolysis and acute liver failure associated as a first manifestation of Wilson’s disease. Ann Intern Med 86: 301–303
Sardharwalla IB (1980) In: Burman D, Holton J B, Pennock C A (eds) Inherited disorders of carbohydrate metabolism. MTP, Lancaster, pp 151, 152
Scott TM, Morton Fyfe W, McKay Hart D (1980) (With comment by Farquhar J W) Maternal phenylketonuria: abnormal baby despite low phenylalanine diet during pregnancy. Arch Dis Child 55: 634–649
Smith I, Lobascher M, Wolff O H (1973) Factors influencing outcome in early treated phenylketonuria. In: Seakins J W T, Saunders R A, Toothill C (eds) Treatment of inborn errors of metabolism. Churchill Livingstone, London, pp 41, 49
Smith I, Lobascher M E, Stevenson J E et al. (1978) Effect of stopping low-phenylalanine diet on intellectual progress of children with phenylketonuria. Br Med J ii: 723–726
Smith I, Erdohazi M, Macartney F J et al. (1979) Fetal damage despite low-phenylalanine diet after conception in a phenylketonurie woman. Lancet i: 17–19
Smith P, Morris A (1979) Assessment of a programme to screen the newly born for congenital hypothyroidism. Community Medicine 1: 14–22
Snodgrass P J (1981) Biochemical aspects of urea cycle disorders. Pediatrics 68: 273–283
Stevenson J E, Hawcroft J, Lobascher M et al. (1979) Behavioural deviance in children with early treated phenylketonuria. Arch Dis Child 54: 14–18
Sunderland I, Hudson FP, Hawcroft J (1978) MRC/DHSS Phenylketonuria Register Newsletter No. 5. MRC/DHSS, London 1978.
Walker V, Clayton B E, Ersser R S et al. (1981) Hyperphenylalaninaemia of various types amongst three quarters of a million neonates tested in a screening programme. Arch Dis Child 56: 759–764
Walshe J M (1962) Wilson’s disease: The presenting symptoms. Arch Dis Child 37: 253–256
Walshe J M (1973) Copper chelation in patients with Wilson’s disease. A comparison of penicillamine and triethylene tetramine dihyrochloride. Am J Med 42: 441–52
Walshe JM, Potter G (1977) The pattern of the whole body distribution of radioactive copper (67Cu, 64Cu) in Wilson’s disease in various control groups. Q J Med 46: 445–462
Wewalka, F Von (1967) Morbus Wilson. Einführung in die aktuellen Probleme ( Frühdiagnose und Therapie ). Wiener Zeitschrift fuer Innere Medizin und ihre Grenzgebiete 48: 461–467
Author information
Authors and Affiliations
Rights and permissions
Copyright information
© 1983 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Weller, R.O., Swash, M., McLellan, D.L., Scholtz, C.L. (1983). Metabolic Disorders Affecting the Nervous System. In: Clinical Neuropathology. Springer, London. https://doi.org/10.1007/978-1-4471-1335-5_12
Download citation
DOI: https://doi.org/10.1007/978-1-4471-1335-5_12
Publisher Name: Springer, London
Print ISBN: 978-1-4471-1337-9
Online ISBN: 978-1-4471-1335-5
eBook Packages: Springer Book Archive