Reviews And Selected Updates

Chaves-Carballo E: Detection of inherited metabolic disorders. Pediatr Clin North Am 1992;39:801-820.

Chinnery PF, Johnson MA, Taylor RW: A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia. Neurology 1997;49:1166-1168.

DiDonato S, Parini R, Uziel G: Metabolic Encephalopathies, Therapy and Prognosis. London, John Libbey & Co, 1995.

Lindoz NM, Karnes PS: Initial assessment of infants and children with suspected inborn errors of metabolism. Mayo Clin Proc 1995;70:987- 988. Lyon G, Adams RD, Kolodny EH: Neurology of Hereditary Metabolic Diseases of Children, 2nd ed. New York, McGraw-Hill, 1996. McKusick V: Mendelian Inheritance in Man, 11th ed. Baltimore, Johns Hopkins University Press, 1994. Ozand PT, Gascon GG: Organic acidurias: A review: I and II. J Child Neurol 1991;6:96-219, 288-303.

Saudubray JM, Charpentier C: Clinical phenotypes: Diagnosis/algorithm. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease, 7th ed. New York, McGraw- Hill, 1995, pp 327-400.



1. Millington DS, Kodo N, Norwood DL, Roe CR: Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. j Inherit Metab

Dis 1990;13:321-324

2. 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

3. Menkes JH, Hurst PL, Craig HM: New syndrome; progressive infantile cerebral dysfunction associated with unusual urinary substance. Pediatrics 1954;14:462-467

4. Naylor EW: Newborn screening for maple syrup urine disease. In Therrell BL (ed): Laboratory Methods for Neonatal Screening. Washington, DC, American Public Health Association, 1993, pp 115-1 24.

5. Dancis J: Variants of maple syrup urine disease. In Nyhan WL (ed): Heritable Disorders of Amino Acid Metabolism. New York, John Wiley & Sons, 1974, pp 32-.6.

6. Tharp BR: Unique EEG pattern (comb-like rhythm) in neonatal maple syrup urine disease. Pediatr Neurol 1992;8:65-68

7. Berry GT, Heidenreich R, Kaplan P, et al: Branched-chain amino acid-free parenteral nutrition in the treatment of acute metabolic decompensation in patients with maple syrup urine disease. n Engl j

Med 1991;324:175-179

8. Rabier D, Narcy C, Revillon HP, et al: Normalization of plasma branched-chain amino acids (BCAA's) after liver transplantation in maple syrup urine disease (MSUD). Abstracts of the 29th ssiem Annual Symposium, London, September 10-13th, 1991, p 12..

9. Nord A, Van Doornick WJ, Greene C: Developmental profile of patients with maple syrup urine disease. j Inherit Metab Dis i99i;i4:88i-889

10. Wendel U, Rudiger HW, Passarge E, Mikkelsen M: Maple syrup urine disease: Rapid prenatal diagnosis by enzyme assay. Humangenetik 1973;19:127-128

11. Allan JD, Cusworth DC, Dent CE, Wilson VK: A disease, probably hereditary, characterized by severe mental deficiency and a constant gross abnormality of the amino acid metabolism. Lancet

1958;1:182- 187

12. McMurray WC, Mohyuddin F, Rossiter FJ, et al: Citrullinuria: A new aminoaciduria associated with mental retardation. Lancet 1962;1:138

13. Russell A, Levin B, Oberholzer VG, Sinclair L: Hyperammonemia: A new instance of an inborn enzymatic defect of the biosynthesis of urea. Lancet 1962;2:699-700

14. Freeman JM, Nicholson JF, Schimke RT, et al: Congenital hyperammonemia: Association with hyperglycinemia and decreased levels of carbamyl phosphate synthetase. Arch Neurol 1970;23:430-437

15. Issa AR, Yadav G, Teebi AS: Intrafamilial phenotypic variability in citrullinemia: Report of a family. j Inherit Metab Dis 1988;11:306- 307

16. Levy HL, Coulombe JT, Shih VE: Newborn urine screening. In Bickel H, Guthrie R, Hammersen G (eds): Neonatal Screening for Inborn Errors of Metabolism. Berlin, Springer-Verlag, 1980, pp 89- 03.

17. Lemieux B, Auray-Blais CH, Giguere R: Comparison between amino acids and orotic acid analysis in the detection of urea cycle disorders in the Quebec urinary screening program. AdvExp Biol Med


18. Neu AM, Christenson MJ, Brusilow SW: Hemodialysis for inborn errors of metabolism. In Nissenson AR, Fine AR (eds): Dialysis Therapy, 2nd ed. Philadelphia, Hanley & Belfus, 1992, pp 371-3 2.

19. Todo S, Starzl TE, Tzakis A, et al: Orthoptic liver transplantation for urea cycle enzyme deficiency. Hepatology 1992;15:419-422

20. Hjelm M, de Silva LVK, Seakins JWT, et al: Evidence of inherited urea cycle defect in a case of fatal valproate toxicity. bmj 1986;292:23-24

21. Msall M, Batshaw ML, Suss R, et al: Neurologic outcome in children with inborn errors of urea synthesis. n Engl j Med 1984;310:1500- 1505

22. Nyhan WL, Borden MA, Bard L, Cooke RE: Idiopathic hyperglycinemia, a new disorder of amino acid metabolism. Pediatrics 1961;27:530-550

23. Ozand PT, Rashed M, Gascon GG, et al: Unusual presentations of propionic acidemia. Brain Dev 1994;16(Suppl):46-57

24. Oberholzer VG, Levin B, Burgess EA, Young WF: Methylmalonic aciduria: an inborn error of metabolism leading to chronic acidosis. Arch Dis Child 1967;42:492-504

25. Mudd SH, Levy HL, Abeles RH, Kennedy JP Jr: A derangement in B12 metabolism leading to homocystinemia, cystathioninemia and methylmalonic aciduria. Biochem Biopsy Res Commun 1969;35:121-126.

26. Kahler SG, Sherwood WG, Woolf D, et al: Pancreatitis in patients with organic acidemias. j Pediatr 1994;124:239-243

27. Van der Meer SB, Poggi F, Spada M, et al: Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia. j Pediatr 1994;125:903-908

28. Terheggen HG, Schwenk A. Lowenthal A, et al: Argininemia with arginase deficiency. (Letter.) Lancet 1969;2:748-749

29. McInnes RR, Shih V, Chilton S: Interallelic complementation in an inborn error of metabolism: genetic heterogeneity in argininosuccinate lyase deficiency. Proc Natl Acad Sci usa 1984;81:4480-4484

30. Terheggen HG, Lowenthal A, Colombo JP: Clinical and biochemical findings in argininemia. Adv Exp Med Biol 1982;153:111-119

31. Hauser ER, Finkelstein JE, Valle D, Brusilow SW: Allopurinol-induced orotidinuria: A test for mutations at the ornithine transcarbamylase locus in women. n Engl j Med 1990;322:1641-1645

32. Pitt DB, Danks DM: The natural history of untreated phenylketonuria. j Pediatr Child Health 1991;27:189-190.

33. Dobson JC, Kushida E, Williamson M, Friedman G: Intellectual performance of 36 phenylketonuria patients and their nonaffected siblings. Pediatrics 1976;58:53-58

34. Guthrie R: Blood screening for phenylketonuria. (Letter.) jama 1961;178:863

35. Lenke RR, Levy HL: Maternal phenylketonuria and hyperphenylalaninemia: An international survey of untreated and treated pregnancies. n Engl j Med 1980;303:1202-1208

36. Blau N, Barnes I, Dhondt JL: International database of tetrahydrobiopterin deficiencies: An update. j ssiem 1995;33:PO25

37. Blau N, Barnes I, Dhondt JL: International database of tetahydrobiopterin deficiencies. j Inherit Metab Dis 1996;19:8-13

38. Blau N, Kierat L, Heizmann CW, et al: Screening for tetrahydrobiopterin deficiency in newborns using dried urine on filter paper. j Inherit Metab Dis 1992;15:402-404

39. Ribes A, Vilaseca MA, Briones P, et al: Methylmalonic aciduria with homocystinuria. j Inherit Metab Dis 1984;7(Suppl):129-13t.

40. Carson NAJ, Neill DW: Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland. Arch Dis Child 1962;37:505-513

41. Qureshi AA, Rosenblatt DS, Cooper B: Inherited disorders of cobalamin metabolism. CritRevOncHematol 1994;17:133-151

42. Barber GW, Spaeth GL: Pyridoxine therapy in homocystinuria. (Letter.) Lancet 1967;1:337

43. Wilcken DEL, Wilcken B: The pathogenesis of coronary artery disease: A possible role for methionine metabolism. J Clin Invest 1976;57:1079-1082

44. Goodman SI, Markey SP, Moe PG, et al: Glutaric aciduria: A "new" disorder of amino acid metabolism. Biochem Med 1975;12:12-21

45. Heyes MP: Hypothesis: a role for quinolinic acid in the neuropathology of glutaric aciduria type 1. Can J Neurol Sci 1987;14:441-443

46. Brismar J, Ozand PT: CT and MRI of the brain in glutaric acidemia type 1: A review of 59 published cases and a report of 5 new patients. ajnr 1995;16:675-683

47. Wolf B, Grier RE, Allen RJ, Goodman SI, Kien CL: Biotinidase deficiency: the enzymatic deficit in late onset multiple carboxylase deficiency. Clin Chim Acta 1983;131:272-28:

48. Wolf B: Worldwide survey of neonatal screening for biotinidase deficiency. J Inherit Metab Dis 1991;14:923-927

49. Suchy SF, Secor McVoy JR, Wolf B: Neurologic symptoms of biotinidase deficiency: Possible explanation. Neurology 1985;35:1510-1511

50. Shoffner JM, Wallace DC: Oxidative phosphorylation diseases. In Scriver CR, Beaudet AL, Sly WE, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease, 7th ed. New York, McGraw- Hill, 1995, pp 1535-110.

51. Shoffner JM, Wallace DC: Oxidative phosphorylation diseases. Disorders of two genomes. AdvHum Genet 1990;19:267-330

52. Leigh D: Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry 1951;14:216-221

53. Santorelli FM, Shanske S, Macaya A, et al: The mutation at nt8993 of mitochondrial DNA is a common cause of Leigh's syndrome. Ann Neurol 1993;34:827-834

54. Alpers BJ: Diffuse progressive degeneration of the gray matter of the cerebrum. Arch Neurol Psychiatry 1931;25:469-505

55. Harding BN: Progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher syndrome): A personal review. J Child Neurol 1990;5:273-287

56. Alfonso I: Lactic acidemia in the newborn. Int Pediatr 1995;10(Suppl 1):40-43

57. Shoffner JM, Lott MT, Lezza AMS, et al: Myoclonic epilepsy and ragged red fiber disease (MERRF) is associated with mitochondrial DNA tRNA Lys mutation. Cell 1990;61:931-937

58. Hirano M, Pavlakis SG: Mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes (MELAS): Current concepts. J Child Neurol 1994;9:4-13

59. Moraes CT, Di Mauro S, Zeviani M, et al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. n Engl J Med 1989;320:1293-1299

60. Wallace DG, Singh G, Lott MT, et al: Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988;1242:1427-1430

61. Schon EA, Tritschler HJ, Moraes C, et al: Mitochondrial myopathies. Int Pediatr 1992;7:23-27

62. Centers for Disease Control: Reye syndrome surveillance--United States, 1989. mmwr Morb Mortal Wkly Rep 1991;40:88-89

63. Van Coster RN, DeVivo DC, Blake D, et al: Adult Reye's syndrome: A review with new evidence for a generalized defect in intramitochondrial enzyme processing. Neurology 1991;41:1815-1821

64. DeVivo DC: Reye syndrome: A metabolic response to an acute mitochondrial insult? Neurology 1978;28:105-108

65. Woodfin BM, Davis LE: Displacement of hepatic ornithine carbamoyltransferase

from mitochondria to cytosol in Reye's syndrome. Biochem Med Metabol Biol 1991;46:255-262.

66. Wilson R, Miller J, Greene H, et al: Reye's syndrome in three siblings. Am J Dis Child 1980;134:1032-1034

67. Forsyth BW, Horwitz RI, Acampora D, et al: New epidemiologic evidence confirming that bias does not explain the aspirin/Reye's syndrome association. jama 1989;261:2517-2524

68. Kotagal S, Rolfe U, Schwartz KB, Escober W: "Locked-in" state following Reye's syndrome. Ann Neurol 1984;15:599-601

69. Roe CR, Coates PM: Mitochondrial fatty acid oxidation disorders. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease, 7th ed. New York, McGraw- Hill, 1995, pp 1501-1.25.

70. DeVivo DG, Tein I: Primary and secondary disorders of carnitine metabolism. Int Pediatr 1990;5:134-141

71. Levy HL: Hartnup disorder. In Scriver CR, Beaudet AL, Sly WE, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease, 7th ed. New York, McGraw-Hill, 1995, pp 3629-3639.

72. Kaler SG: Menkes disease. Adv Pediatr 1994;41:263-304

73. DeVivo DC, Trifiletti RR, Jacobson RI, et al. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures and developmental delay. n Engl J Med


74. Rossiter BJF, Caskey TC: Hypoxanthine-guanine phosphoribosyl transferase deficiency; Lesch-Nyhan syndrome and gout. In Scriver cr, Beaudet al, Sly ws, Valle d (eds): The Metabolic and Molecular Bases of Inherited Disease, 7th ed. New York, McGraw-Hill, 1995, pp 1679-169 '.

75. Ridley A: The neuropathy of acute intermittent porphyria. q j Med 1969;38:307-333

76. Tefferi A, Solberg LA, Ellefson RD: Porphyrias: Clinical evaluation and interpretation of laboratory tests. Mayo Clin Proc 1994;69:289- 290

77. Elder GH, Smith SG, Smyth SJ: Laboratory investigation of the porphyrias. Ann Clin Biochem 1990;27:395-412


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