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J Med Genet. 1994 November; 31(11): 875–879.
PMCID: PMC1016663

Pyruvate dehydrogenase deficiency.

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Selected References

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  • Robinson BH, Chun K, Mackay N, Otulakowski G, Petrova-Benedict R, Willard H. Isolated and combined deficiencies of the alpha-keto acid dehydrogenase complexes. Ann N Y Acad Sci. 1989;573:337–346. [PubMed]
  • Ho L, Wexler ID, Kerr DS, Patel MS. Genetic defects in human pyruvate dehydrogenase. Ann N Y Acad Sci. 1989;573:347–359. [PubMed]
  • Brown GK, Brown RM, Scholem RD, Kirby DM, Dahl HH. The clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency. Ann N Y Acad Sci. 1989;573:360–368. [PubMed]
  • Robinson BH, MacMillan H, Petrova-Benedict R, Sherwood WG. Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex. J Pediatr. 1987 Oct;111(4):525–533. [PubMed]
  • Brown GK. Pyruvate dehydrogenase E1 alpha deficiency. J Inherit Metab Dis. 1992;15(4):625–633. [PubMed]
  • Byrd DJ, Krohn HP, Winkler L, Steinborn C, Hadam M, Brodehl J, Hunneman DH. Neonatal pyruvate dehydrogenase deficiency with lipoate responsive lactic acidaemia and hyperammonaemia. Eur J Pediatr. 1989 Apr;148(6):543–547. [PubMed]
  • Brown GK, Scholem RD, Hunt SM, Harrison JR, Pollard AC. Hyperammonaemia and lactic acidosis in a patient with pyruvate dehydrogenase deficiency. J Inherit Metab Dis. 1987;10(4):359–366. [PubMed]
  • Brown GK, Haan EA, Kirby DM, Scholem RD, Wraith JE, Rogers JG, Danks DM. "Cerebral" lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis. Eur J Pediatr. 1988 Jan;147(1):10–14. [PubMed]
  • Kretzschmar HA, DeArmond SJ, Koch TK, Patel MS, Newth CJ, Schmidt KA, Packman S. Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh disease). Pediatrics. 1987 Mar;79(3):370–373. [PubMed]
  • Chow CW, Anderson RM, Kenny GC. Neuropathology in cerebral lactic acidosis. Acta Neuropathol. 1987;74(4):393–396. [PubMed]
  • Montpetit VJ, Andermann F, Carpenter S, Fawcett JS, Zborowska-Sluis D, Giberson HR. Subacute necrotizing encephalomyelopathy. A review and a study of two families. Brain. 1971;94(1):1–30. [PubMed]
  • Hansen LL, Brown GK, Kirby DM, Dahl HH. Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency. J Inherit Metab Dis. 1991;14(2):140–151. [PubMed]
  • Cross JH, Connelly A, Gadian DG, Kendall BE, Brown GK, Brown RM, Leonard JV. Clinical diversity of pyruvate dehydrogenase deficiency. Pediatr Neurol. 1994 Jun;10(4):276–283. [PubMed]
  • Robinson BH, MacKay N, Petrova-Benedict R, Ozalp I, Coskun T, Stacpoole PW. Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemia. J Clin Invest. 1990 Jun;85(6):1821–1824. [PMC free article] [PubMed]
  • Wicking CA, Scholem RD, Hunt SM, Brown GK. Immunochemical analysis of normal and mutant forms of human pyruvate dehydrogenase. Biochem J. 1986 Oct 1;239(1):89–96. [PubMed]
  • Dahl HH, Brown GK, Brown RM, Hansen LL, Kerr DS, Wexler ID, Patel MS, De Meirleir L, Lissens W, Chun K, et al. Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene. Hum Mutat. 1992;1(2):97–102. [PubMed]
  • Dahl HH, Hansen LL, Brown RM, Danks DM, Rogers JG, Brown GK. X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutation. J Inherit Metab Dis. 1992;15(6):835–847. [PubMed]
  • Brown RM, Fraser NJ, Brown GK. Differential methylation of the hypervariable locus DXS255 on active and inactive X chromosomes correlates with the expression of a human X-linked gene. Genomics. 1990 Jun;7(2):215–221. [PubMed]
  • Brown RM, Brown GK. X chromosome inactivation and the diagnosis of X linked disease in females. J Med Genet. 1993 Mar;30(3):177–184. [PMC free article] [PubMed]
  • Matthews PM, Brown RM, Otero LJ, Marchington DR, LeGris M, Howes R, Meadows LS, Shevell M, Scriver CR, Brown GK. Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients. Brain. 1994 Jun;117(Pt 3):435–443. [PubMed]
  • Brown RM, Brown GK. Prenatal diagnosis of pyruvate dehydrogenase E1 alpha subunit deficiency. Prenat Diagn. 1994 Jun;14(6):435–441. [PubMed]

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