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Metabolic Disorders Affecting the Nervous System

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Clinical Neuropathology

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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.

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References

  • Aleck KA, Shapiro LJ (1978) Genetic-metabolic considerations in the sick neonate. Pediatr Clin North Am 25: 431–451

    PubMed  CAS  Google Scholar 

  • Anonymous (1980) Dietary promise for PKU patients. Medical Research Council News, No. 8, p 3

    Google Scholar 

  • 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

    Chapter  Google Scholar 

  • Baker L, Winegrad AI (1970) Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity. Lancet ii: 13–16

    Article  Google Scholar 

  • 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

    PubMed  CAS  Google Scholar 

  • Bickel H (ed) (1981) Maternal phenylketonuria—an International workshop held in Frankfurt/Main April 22, 1980. Pentadruck, Eppingen

    Google Scholar 

  • 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.)

    Google Scholar 

  • Brusilow SWT, Batshaw ML (1979) Arginine therapy of argininosuccinase deficiency. Lancet i: 124–127

    Article  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • Chalmers R A, Lawson A M (1982) Organic acids in man. Chapman and Hall, London

    Book  Google Scholar 

  • 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

    Article  CAS  Google Scholar 

  • 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

    Google Scholar 

  • Comar D, Saudubray JM, Duthilleul A etal. (1981) Brain uptake of 11C-methionine in phenylketonuria. Europ J Pediatr 136: 13–19

    Article  CAS  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • Danks DM, Cotton RGH (1980) Early diagnosis of hyper-phenylalaninaemia due to tetrahydrobiopterin deficiency (malignant hyperphenylalaninaemia). Pediatr 96: 854–856

    Article  CAS  Google Scholar 

  • 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

    PubMed  CAS  Google Scholar 

  • Danks D M, Bartholomie K, Clayton B E et al. (1978) Malignant hyperphenylalaninaemia—current status (June 1977) J Inher Metabol Dis 1: 49–53

    Article  CAS  Google Scholar 

  • Department of Health and Social Security, National Health Service (1969) Screening for early detection of phenylketonuria. HM(69)72, HMSO, London

    Google Scholar 

  • Department of Health and Social Security (1974) Present day practice in infant feeding. Reports on Health and Social Subjects, No. 9. HMSO, London

    Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • 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

    Chapter  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • Fishler K, Koch R, Donnell G N, Wenz E (1980) Developmental aspects of galactosaemia from infancy to childhood. Clin Pediatr 19: 38–44

    Article  CAS  Google Scholar 

  • Francis DEM (1975) Diets for sick children, 3rd edn. Blackwell Scientific, Oxford

    Google Scholar 

  • 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

    PubMed  CAS  Google Scholar 

  • 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

    Chapter  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • Guthrie R (1961) Blood screening for phenylketonuria (Letter). JAMA 178: 863

    Google Scholar 

  • Güttler F (1980) Hyperphenylalaninaemia. Acta Pediatr Scand [Suppl 280]

    Google Scholar 

  • Hall G A, Howell J M C (1973) Lesions produced by copper deficiency in neonate and older rats. Br J Nutr 29: 95–104

    Article  PubMed  CAS  Google Scholar 

  • Hulse J A, Grant D B, Clayton B E et al. (1980) Population screening for congenital hypothyroidism. Br Med J 1: 675–678

    Article  Google Scholar 

  • Kaufman S (1978) The enzymes for the hepatic phenylalanine hydroxylating system. J Inher Metabol Dis 1: 63–65.

    Article  CAS  Google Scholar 

  • Kaufman S (1980) Differential diagnosis of variant forms of hyperphenylalaninaemia. Pediatrics 65: 840–842

    PubMed  CAS  Google Scholar 

  • 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

    Article  Google Scholar 

  • Leonard J V, Dunger D B (1978) Hypoglycaemia complicating feeding regimes for glycogen storage disorders. Lancet ii: 1203–1204

    Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  Google Scholar 

  • Lott I T, Dipaola R, Raghavan S S et al. (1979) Abnormal copper metabolism in Menkes’ steely-hair syndrome. Pediatr Res 13: 845–150

    Article  PubMed  CAS  Google Scholar 

  • Menkes JH, Hurst PL, Craig JM (1954) New syndrome. Progressive familial infantile cerebral dysfunction associated with an unusual urinary substance. Pediatrics 14: 462–466

    PubMed  CAS  Google Scholar 

  • 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

    PubMed  CAS  Google Scholar 

  • Miles J H, Kaback M M (1978) Prenatal diagnosis of hereditary disorders. Pediatr Clin North Am 25: 593–618

    PubMed  CAS  Google Scholar 

  • Mudd SH, Finkelstein J D, Irreverre F, Laster L (1964) Homocystinuria: an enzymatic defect. Science 143: 1443–1445

    Article  PubMed  CAS  Google Scholar 

  • 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

    Google Scholar 

  • O’Brien D, Berlow S, Donnel G et al. (1980) New developments in hyperphenylalaninaemia. Pediatrics 65: 844–846

    Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • Raine DN (1974) The need for a national policy for the management of inherited metabolic disease. J Clin Pathol 27: [Suppl 8] 156–163

    Article  Google Scholar 

  • 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

    Google Scholar 

  • Sardharwalla IB (1980) In: Burman D, Holton J B, Pennock C A (eds) Inherited disorders of carbohydrate metabolism. MTP, Lancaster, pp 151, 152

    Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • 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

    Google Scholar 

  • 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

    Article  Google Scholar 

  • 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

    Article  Google Scholar 

  • Smith P, Morris A (1979) Assessment of a programme to screen the newly born for congenital hypothyroidism. Community Medicine 1: 14–22

    PubMed  CAS  Google Scholar 

  • Snodgrass P J (1981) Biochemical aspects of urea cycle disorders. Pediatrics 68: 273–283

    PubMed  CAS  Google Scholar 

  • Stevenson J E, Hawcroft J, Lobascher M et al. (1979) Behavioural deviance in children with early treated phenylketonuria. Arch Dis Child 54: 14–18

    Article  PubMed  CAS  Google Scholar 

  • Sunderland I, Hudson FP, Hawcroft J (1978) MRC/DHSS Phenylketonuria Register Newsletter No. 5. MRC/DHSS, London 1978.

    Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • Walshe J M (1962) Wilson’s disease: The presenting symptoms. Arch Dis Child 37: 253–256

    Article  PubMed  CAS  Google Scholar 

  • 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

    CAS  Google Scholar 

  • 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

    PubMed  CAS  Google Scholar 

  • 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

    CAS  Google Scholar 

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Authors and Affiliations

  1. University of Southampton, England

    Roy O. Weller BSc, MD, PhD, FRCpath (Professor of Neuropathology and Consultant Neuropathologist) & D. Lindsay McLellan MA, MB, PhD, FRCP (Senior Lecturer in Neurology and Consultant Neurologist)

  2. Wessex Regional Neurological Centre, Southampton, England

    Roy O. Weller BSc, MD, PhD, FRCpath (Professor of Neuropathology and Consultant Neuropathologist) & D. Lindsay McLellan MA, MB, PhD, FRCP (Senior Lecturer in Neurology and Consultant Neurologist)

  3. The London Hospital and St Mark’s Hospital, London, England

    Michael Swash MD, FRCP, MRCPath (Consultant Neurologist and Senior Lecturer in Neuropathology)

  4. the London Hospital Medical College, London, England

    Michael Swash MD, FRCP, MRCPath (Consultant Neurologist and Senior Lecturer in Neuropathology)

  5. The London Hospital Medical College, England

    Carl L. Scholtz MB, MSc, FRCPA (Senior Lecturer in Neuropathology and Consultant Neuropathologist)

  6. The London Hospital, London, England

    Carl L. Scholtz MB, MSc, FRCPA (Senior Lecturer in Neuropathology and Consultant Neuropathologist)

Authors
  1. Roy O. Weller BSc, MD, PhD, FRCpath
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  2. Michael Swash MD, FRCP, MRCPath
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  3. D. Lindsay McLellan MA, MB, PhD, FRCP
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  4. Carl L. Scholtz MB, MSc, FRCPA
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© 1983 Springer-Verlag Berlin Heidelberg

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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

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  • 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

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