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Table of contents

  1. Abstract
  2. Introduction
  3. Chronic Encephalopathy
  4. Acute Encephalopathy
  5. Ataxia and Extrapyramidal Movement Disorders
  6. Myopathy
  7. Psychiatric problems
  8. Biochemical investigations
  9. Glucose
  10. Blood Gases and Acid-base Profile
  11. Lactate
  12. Ketones
  13. Ammonium
  14. Amino acids
  15. Organic acids
  16. Mucopolysaccharides
  17. Oligosaccharides
  18. Acylcarnitine and acylglycines
  19. Very-long-chain fatty acids (VLCFA)
  20. Red Cell Plasmalogens
  21. Pipecolic acid
  22. Enzyme studies
  23. Tandem mass spectrometry
  24. Molecular genetic studies
  25. Neuroimaging
  26. Treatment of inherited neurometabolic disorders
  27. Conclusion
  28. References
  29. Figures
  30. Tables

References
- An insight into the biochemistry of inborn errors of metabolism for a clinical neurologist


1. Garrod AG. Inborn error of metabolism. Oxford: Oxford University Press; 1909.  
2. Scriver CR, Beaudet al, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease, 8th ed. New York: McGraw-Hill; 2001.  
3. Clarke JT, editor. A clinical guide to inherited metabolic diseases, 2nd ed. United Kingdom: Cambridge University Press; 2002. 
4. Shevell M, Ashwal S, Donley D, Flint J, Gingold M, Hirtz D, et al. Practice parameter: Evaluation of the child with global developmental delay: Report of the quality standards subcommittee of the American Academy of Neurology and the practice committee of the child neurology society. Neurology 2003;60:367-80. 
5. Burton BK. Inborn errors of metabolism in infancy: A guide to diagnosis. Pediatrics 1998;102:e63.  
6. Salem M. Metabolic ataxias. In: Vinken PJ, Bruyn GW, editors. Handbook of clinical neurology. Vol 21. Amsterdam: North-Holland; 1975. p. 573-85.  
7. Barth PG, Hoffmann GF, Jaeken J, Lehnert W, Hanefeld F, van Gennip AH, et al. L2 hydroxy glutaric academia: A novel inherited neurometabolic disease. Ann Neurol 1992;32:66-71.  
8. Topcu M, Aydin OF, Yalcinkaya C, Haliloπlu G, Aysun S, Anlar B, et al. L-2-Hydroxyglutaric aciduria: A report of 29 patients. Turk J Pediatr 2005;47:1-7.  
9. Parker CC, Evans OB. Metabolic disorders causing childhood ataxia. Semin Pediatr Neurol 2003;10:193-9.  
10. Gascon GG, Ozand PT, Brismar J. Movement disorders in childhood organic acidurias: Clinical neuroimaging and biochemical correlations. Brain Dev 1994;16:94-103.
11. Uc EY Rodnitzky RL. Childhood dystonia. Semin Pediatr Neurol 2003;10:52-61.   
12. Superti-Furga A. Hoffman GF. Glutaric aciduria type 1 (Glutaryl CoA-dehydrogenase deficiency): Advances and unanswered questions. Eur J Pediatr 1997;157:821.  
13. Heidenriech R, Natowics M, Hainline BE, Berman P, Kelley RI, Hillman RE, et al. Acute extrapyramidal syndrome in methyl malonic academia: "Metabolic stroke" involving the globus pallidus. J Pediatr 1988;113:1022-7.  
14. Puig JG, Torres RJ, Mateos FA, Arcas J, Buρo A, Pascual-Castroviejo I. The spectrum of HGPRT deficiency: Clinical experience based on 20 patients from 16 Spanish families. Adv Exp Med Biol 1998;421:25-9.
15. Segawa M, Hosaka A, Miyagawa F, Nomura Y, Imai H. Hereditary progressive dystonia with marked diurnal fluctuation. Adv Neurol 1976;14:215-33.  
16. Imrie J, Vijayaraghaven S, Whitehouse C, Harris S, Heptinstall L, Church H, et al. Niemann-pick type C in adults. J Inherit Metab Dis 2002;25:491-500.
17. Joseph KA, Van ger pen MW, Van Gerpen JA. Adult onset nieman-pick disease type C presenting with psychosis. J Neurol Neurosurg Psychiatry 2003;74:528-9. 
18. Meek D, Wolf LS, Anderman E, Anderman F. Juvenile progressive dystonia: A new phenotype of GM2 gangliosidosis. Ann Neurol 1984;15:348-52.  Back to cited text no. 18    
19. Hardie RJ, Young EP, Morgan-Hughes JA. Hexosaminidase A deficiency presenting as juvenile progressive dystonia. J Neurol Neurosurg Psychiatry 1988;51:446-59.
20. Roze E, Paschke E, Lopez N, Eck T, Yoshida K, Maurel-Ollivier A, et al. Dystonia and Parkinsonism in GM1 type 3 gangliosidosis. Mov Disord 2005;20:1366-9.  
21. Muthane UB, Chikkabasaviah Y, Kaneski C, Shankar SK, Narayanappa G, Christopher R, et al. Clinical features of adult GM1 gangliosidosis: Report of three Indian patients and review of 40 cases. Mov Disord 2004;19:1334-41.  
22. DiMauro S, Tonin P, Servidei S. Metabolic myopathies. In: Vinken PJ, Bruyn GW, editors. Handbook of clinical neurology, vol 18. Amsterdam: North Holland; 1992. p. 479-526.  
23. Al-Khatib A, Dulaney E, Katirji B. Ischemic forearm exercise test. In: Katriji B, et al, editors. Neuromuscular disorders in clinical practice. Boston: Butterworth-Heinemann; 2002. p. 74-9.   
24. Grey RG, Preece MA, Green SH, Whitehouse W, Winer J, Green A. Inborn error of metabolism as a cause of neurological disease in adults: An approach to investigation. J Neurol Neurosurg Psychiatry 2000;69:5-12.  
25. Bosch EP, Hart MN. Late adult onset metachromatic Leukodystrophy. Arch Neurol 1978;35:475.  
26. Boumann N, Masson M, Casseau V, Lefevre M, Herschkowitz N, Turpin JC. Adult forms of metachromatic leukodystrophy: Clinical and biochemical approach. Dev Neurosci 1991;13:211-5.  
27. Dimango EP, Lowe JE, Snodgrass PJ, Jones JD. Ornithine carbamylase deficiency: A cause of bizarre behaviour in a man. N Engl J Med 1986;315:744-7. 
28. Finkelstein JE, Hauser ER, Leonard CO, Brusilow SW. Late onset ornithine transcarbamylase deficiency in male patients. J Pediatr 1990;117:897-902.  
29. Sovik O. Inborn errors of aminoacid and fatty acid metabolism with hypoglycemia as a major clinical manifestation. Acta Paediatr Scand 1989;78:161-70.   
30. Saudubury JM, de Lonlay P, Touati G, Martin D, Nassogne MC, Castelnau P, et al. Genetic hypoglycaemia in infancy and childhood: Pathophysiology and diagnosis. J Inherit Metab Dis 2000;23:197-214.
31. Robinson BH. Lactic acidemia: Biochemical, clinical and genetic considerations. In: Harris H, Hirschborn K, editors. Advances in human genetics. New York: Plenum; 1989. p. 151-70.   
32. Saudubray JM, Specola N, Middleton B. Hyperketotic states due to inherited defects of ketolysis. Enzyme 1987;38:89-90.  
33. Chace DH, Kalas TA, Naylor EW. Use of tandem mass spectrometry for multi-analytic screening of dried blood specimens for newborns. Clin Chem 2003;49:1797-817.
34. Schulze A, Lindner M, Kohlmuller D, Olgemuller K, Mayatepek E, Hoffmann GF. Expanded newborn screening for inborn errors of metabolism by electrospray ionisation-tandem mass spectrometry: Results, outcome, and implications. Pediatrics 2003;111:1399-406.  
35. Pandor A, Eastham J, Beverley C, Chilcott J, Paisley S. Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: A systematic review. Health Technol Assess 2004;8:iii1-12.
36. Naidu S, Moser HW. Value of neuroimaging in metabolic diseases affecting the central nervous system. AJNR Am J Neuroradiol 1991;12:413-6.
37. Bindu PS, Sinha S, Taly AB, Chandrasekhar HS, Christopher R, Arunodaya GR, et al. Extensive cortical magnetic resonance signal change in proximal urea cycle disorder. J Child Neurol 2007;22:238-9.
38. Shaw DW, Maravilla KR, Weinberger E, Garretson J, Trahms CM, Scott CR. MR imaging of phenylketonuria. AJNR Am J Neuroradiol 1991;12:403-6.  
39. Van der Knaap MS, Valk J. MR imaging in phenyl ketonuria In: Magnetic resonance of myelin, myelination and myelin disorders. 2nd ed. Berlin: Springer-Verlag; 1995. p. 31-52. 
40. Brismar J, Aqueel 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;11:1219-28.   
41. Bindu PS, Shehanaz KE, Christopher R, Pal PK, Ravishankar S. Intermediate maple syrup urine disease: Neuroimaging observations in 3 patients from South India. J Child Neurol 2007;22:911-3.
42. Twomey EL, Naughten ER, Donoghue VB, Ryan S. Neuroimaging findings in glutaric aciduria type 1. Pediatr Radiol 2003;33:823-30. 
43. Brismar J, Ozand PT. CT and MR of the brain in glutaric acidemia type I: A review of 59 published cases and a report of 5 new patients. AJNR Am J Neuroradiol 1995;16:675-83.
44. Neumaier-Probst E, Harting I, Seitz A, Ding C, Kolker S. Neuroradiological findings in glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency). J Inherit Metab Dis 2004;27:869-76.  
45. Andreula CF, De Blasi R, Carella A. CT and MR studies of methyl malonic acidemia. AJNR Am J Neuroradiol 1991;12:410-2. 
46. Korf B, Wallman JK, Levy HL. Bilateral lucency of the globus pallidus complicating methyl malonic academia. Ann Neurol 1986;20:364-6.  
47. Peters C. Effective treatment of the central nervous system in lysosomal storage diseases: Save that brain. J Lab Clin Med 2003;142:361-3. 

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