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. 1995 Mar;56(3):553–557.

Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again.

H H Dahl
PMCID: PMC1801181  PMID: 7887408

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Awata H., Endo F., Tanoue A., Kitano A., Matsuda I. Characterization of a point mutation in the pyruvate dehydrogenase E1 alpha gene from two boys with primary lactic acidaemia. J Inherit Metab Dis. 1994;17(2):189–195. doi: 10.1007/BF00711616. [DOI] [PubMed] [Google Scholar]
  2. Brown G. K., Brown R. M., Scholem R. D., Kirby D. M., Dahl H. H. The clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency. Ann N Y Acad Sci. 1989;573:360–368. doi: 10.1111/j.1749-6632.1989.tb15011.x. [DOI] [PubMed] [Google Scholar]
  3. Brown G. K., Haan E. A., Kirby D. M., Scholem R. D., Wraith J. E., Rogers J. G., Danks D. M. "Cerebral" lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis. Eur J Pediatr. 1988 Jan;147(1):10–14. doi: 10.1007/BF00442603. [DOI] [PubMed] [Google Scholar]
  4. Brown G. K., Otero L. J., LeGris M., Brown R. M. Pyruvate dehydrogenase deficiency. J Med Genet. 1994 Nov;31(11):875–879. doi: 10.1136/jmg.31.11.875. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Brown G. K. Pyruvate dehydrogenase E1 alpha deficiency. J Inherit Metab Dis. 1992;15(4):625–633. doi: 10.1007/BF01799619. [DOI] [PubMed] [Google Scholar]
  6. Brown G. K., Scholem R. D., Hunt S. M., Harrison J. R., Pollard A. C. Hyperammonaemia and lactic acidosis in a patient with pyruvate dehydrogenase deficiency. J Inherit Metab Dis. 1987;10(4):359–366. doi: 10.1007/BF01799978. [DOI] [PubMed] [Google Scholar]
  7. Brown R. M., Brown G. K. X chromosome inactivation and the diagnosis of X linked disease in females. J Med Genet. 1993 Mar;30(3):177–184. doi: 10.1136/jmg.30.3.177. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Brown R. M., Dahl H. H., Brown G. K. X-chromosome localization of the functional gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex. Genomics. 1989 Feb;4(2):174–181. doi: 10.1016/0888-7543(89)90297-8. [DOI] [PubMed] [Google Scholar]
  9. Chun K., MacKay N., Petrova-Benedict R., Federico A., Fois A., Cole D. E., Robertson E., Robinson B. H. Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex. Am J Hum Genet. 1995 Mar;56(3):558–569. [PMC free article] [PubMed] [Google Scholar]
  10. Chun K., MacKay N., Petrova-Benedict R., Robinson B. H. Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex. Hum Mol Genet. 1993 Apr;2(4):449–454. doi: 10.1093/hmg/2.4.449. [DOI] [PubMed] [Google Scholar]
  11. Chun K., MacKay N., Petrova-Benedict R., Robinson B. H. Pyruvate dehydrogenase deficiency due to a 20-bp deletion in exon II of the pyruvate dehydrogenase (PDH) E1 alpha gene. Am J Hum Genet. 1991 Aug;49(2):414–420. [PMC free article] [PubMed] [Google Scholar]
  12. Dahl H. H., Brown G. K., Brown R. M., Hansen L. L., Kerr D. S., Wexler I. D., Patel M. S., De Meirleir L., Lissens W., Chun K. Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene. Hum Mutat. 1992;1(2):97–102. doi: 10.1002/humu.1380010203. [DOI] [PubMed] [Google Scholar]
  13. Dahl H. H., Brown G. K. Pyruvate dehydrogenase deficiency in a male caused by a point mutation (F205L) in the E1 alpha subunit. Hum Mutat. 1994;3(2):152–155. doi: 10.1002/humu.1380030210. [DOI] [PubMed] [Google Scholar]
  14. Dahl H. H., Hansen L. L., Brown R. M., Danks D. M., Rogers J. G., Brown G. K. 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. doi: 10.1007/BF01800219. [DOI] [PubMed] [Google Scholar]
  15. Dahl H. H., Maragos C., Brown R. M., Hansen L. L., Brown G. K. Pyruvate dehydrogenase deficiency caused by deletion of a 7-bp repeat sequence in the E1 alpha gene. Am J Hum Genet. 1990 Aug;47(2):286–293. [PMC free article] [PubMed] [Google Scholar]
  16. De Meirleir L., Lissens W., Denis R., Wayenberg J. L., Michotte A., Brucher J. M., Vamos E., Gerlo E., Liebaers I. Pyruvate dehydrogenase deficiency: clinical and biochemical diagnosis. Pediatr Neurol. 1993 May-Jun;9(3):216–220. doi: 10.1016/0887-8994(93)90088-t. [DOI] [PubMed] [Google Scholar]
  17. De Meirleir L., Lissens W., Vamos E., Liebaers I. Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1 alpha subunit. Hum Genet. 1992 Mar;88(6):649–652. doi: 10.1007/BF02265291. [DOI] [PubMed] [Google Scholar]
  18. Endo H., Hasegawa K., Narisawa K., Tada K., Kagawa Y., Ohta S. Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift. Am J Hum Genet. 1989 Mar;44(3):358–364. [PMC free article] [PubMed] [Google Scholar]
  19. Endo H., Miyabayashi S., Tada K., Narisawa K. A four-nucleotide insertion at the E1 alpha gene in a patient with pyruvate dehydrogenase deficiency. J Inherit Metab Dis. 1991;14(5):793–799. doi: 10.1007/BF01799952. [DOI] [PubMed] [Google Scholar]
  20. Fujii T., Van Coster R. N., Old S. E., Medori R., Winter S., Gubits R. M., Matthews P. M., Brown R. M., Brown G. K., Dahl H. H. Pyruvate dehydrogenase deficiency: molecular basis for intrafamilial heterogeneity. Ann Neurol. 1994 Jul;36(1):83–89. doi: 10.1002/ana.410360116. [DOI] [PubMed] [Google Scholar]
  21. Gartler S. M., Riggs A. D. Mammalian X-chromosome inactivation. Annu Rev Genet. 1983;17:155–190. doi: 10.1146/annurev.ge.17.120183.001103. [DOI] [PubMed] [Google Scholar]
  22. Hansen L. L., Brown G. K., Brown R. M., Dahl H. H. Pyruvate dehydrogenase deficiency caused by a 5 base pair duplication in the E1 alpha subunit. Hum Mol Genet. 1993 Jun;2(6):805–807. doi: 10.1093/hmg/2.6.805. [DOI] [PubMed] [Google Scholar]
  23. Hansen L. L., Brown G. K., Kirby D. M., Dahl H. H. Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency. J Inherit Metab Dis. 1991;14(2):140–151. doi: 10.1007/BF01800586. [DOI] [PubMed] [Google Scholar]
  24. Hansen L. L., Horn N., Dahl H. H., Kruse T. A. Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1 alpha subunit. Hum Mol Genet. 1994 Jun;3(6):1021–1022. doi: 10.1093/hmg/3.6.1021. [DOI] [PubMed] [Google Scholar]
  25. Ho L., Wexler I. D., Kerr D. S., Patel M. S. Genetic defects in human pyruvate dehydrogenase. Ann N Y Acad Sci. 1989;573:347–359. doi: 10.1111/j.1749-6632.1989.tb15010.x. [DOI] [PubMed] [Google Scholar]
  26. Ito M., Huq A. H., Naito E., Saijo T., Takeda E., Kuroda Y. Mutation of E1 alpha gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein. J Inherit Metab Dis. 1992;15(6):848–856. doi: 10.1007/BF01800220. [DOI] [PubMed] [Google Scholar]
  27. Kerr D. S., Berry S. A., Lusk M. M., Ho L., Patel M. S. A deficiency of both subunits of pyruvate dehydrogenase which is not expressed in fibroblasts. Pediatr Res. 1988 Jul;24(1):95–100. doi: 10.1203/00006450-198807000-00022. [DOI] [PubMed] [Google Scholar]
  28. Linn T. C., Pettit F. H., Reed L. J. Alpha-keto acid dehydrogenase complexes. X. Regulation of the activity of the pyruvate dehydrogenase complex from beef kidney mitochondria by phosphorylation and dephosphorylation. Proc Natl Acad Sci U S A. 1969 Jan;62(1):234–241. doi: 10.1073/pnas.62.1.234. [DOI] [PMC free article] [PubMed] [Google Scholar]
  29. Matthews P. M., Brown R. M., Otero L. J., Marchington D. R., LeGris M., Howes R., Meadows L. S., Shevell M., Scriver C. R., Brown G. K. Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients. Brain. 1994 Jun;117(Pt 3):435–443. doi: 10.1093/brain/117.3.435. [DOI] [PubMed] [Google Scholar]
  30. Matthews P. M., Brown R. M., Otero L., Marchington D., Leonard J. V., Brown G. K. Neurodevelopmental abnormalities and lactic acidosis in a girl with a 20-bp deletion in the X-linked pyruvate dehydrogenase E1 alpha subunit gene. Neurology. 1993 Oct;43(10):2025–2030. doi: 10.1212/wnl.43.10.2025. [DOI] [PubMed] [Google Scholar]
  31. Matthews P. M., Marchington D. R., Squier M., Land J., Brown R. M., Brown G. K. Molecular genetic characterization of an X-linked form of Leigh's syndrome. Ann Neurol. 1993 Jun;33(6):652–655. doi: 10.1002/ana.410330616. [DOI] [PubMed] [Google Scholar]
  32. Old S. E., De Vivo D. C. Pyruvate dehydrogenase complex deficiency: biochemical and immunoblot analysis of cultured skin fibroblasts. Ann Neurol. 1989 Dec;26(6):746–751. doi: 10.1002/ana.410260610. [DOI] [PubMed] [Google Scholar]
  33. Patel M. S., Roche T. E. Molecular biology and biochemistry of pyruvate dehydrogenase complexes. FASEB J. 1990 Nov;4(14):3224–3233. doi: 10.1096/fasebj.4.14.2227213. [DOI] [PubMed] [Google Scholar]
  34. Robinson B. H., 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. doi: 10.1111/j.1749-6632.1989.tb15009.x. [DOI] [PubMed] [Google Scholar]
  35. Robinson B. H., MacKay N., Petrova-Benedict R., Ozalp I., Coskun T., Stacpoole P. W. 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. doi: 10.1172/JCI114641. [DOI] [PMC free article] [PubMed] [Google Scholar]
  36. Robinson B. H., Taylor J., Sherwood W. G. The genetic heterogeneity of lactic acidosis: occurrence of recognizable inborn errors of metabolism in pediatric population with lactic acidosis. Pediatr Res. 1980 Aug;14(8):956–962. doi: 10.1203/00006450-198008000-00013. [DOI] [PubMed] [Google Scholar]
  37. Takakubo F., Dahl H. H. Analysis of pyruvate dehydrogenase expression in embryonic mouse brain: localization and developmental regulation. Brain Res Dev Brain Res. 1994 Jan 14;77(1):63–76. doi: 10.1016/0165-3806(94)90214-3. [DOI] [PubMed] [Google Scholar]
  38. Takakubo F., Thorburn D. R., Dahl H. H. A four-nucleotide insertion hotspot in the X chromosome located pyruvate dehydrogenase E1 alpha gene (PDHA1). Hum Mol Genet. 1993 Apr;2(4):473–474. doi: 10.1093/hmg/2.4.473. [DOI] [PubMed] [Google Scholar]
  39. Takakubo F., Thorburn D. R., Dahl H. H. A novel mutation and a polymorphism in the X chromosome located pyruvate dehydrogenase E1 alpha gene (PDHA1). Hum Mol Genet. 1993 Nov;2(11):1961–1962. doi: 10.1093/hmg/2.11.1961. [DOI] [PubMed] [Google Scholar]
  40. Wexler I. D., Hemalatha S. G., Liu T. C., Berry S. A., Kerr D. S., Patel M. S. A mutation in the E1 alpha subunit of pyruvate dehydrogenase associated with variable expression of pyruvate dehydrogenase complex deficiency. Pediatr Res. 1992 Aug;32(2):169–174. doi: 10.1203/00006450-199208000-00009. [DOI] [PubMed] [Google Scholar]
  41. Wexler I. D., Kerr D. S., Ho L., Lusk M. M., Pepin R. A., Javed A. A., Mole J. E., Jesse B. W., Thekkumkara T. J., Pons G. Heterogeneous expression of protein and mRNA in pyruvate dehydrogenase deficiency. Proc Natl Acad Sci U S A. 1988 Oct;85(19):7336–7340. doi: 10.1073/pnas.85.19.7336. [DOI] [PMC free article] [PubMed] [Google Scholar]
  42. de Meirleir L. J., Lissens W., Vamos E., Liebaers I. Pyruvate dehydrogenase deficiency due to a mutation of the E1 alpha subunit. J Inherit Metab Dis. 1991;14(3):301–304. doi: 10.1007/BF01811687. [DOI] [PubMed] [Google Scholar]

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