Pyruvate dehydrogenase E1 alpha deficiency in a family: different clinical presentation in two siblings

J Inherit Metab Dis. 1998 Jun;21(3):224-6. doi: 10.1023/a:1005347501111.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Acidosis / enzymology
  • Acidosis / genetics
  • Amino Acid Metabolism, Inborn Errors / enzymology*
  • Amino Acid Metabolism, Inborn Errors / genetics
  • Cell Line, Transformed
  • Child, Preschool
  • Female
  • Humans
  • Male
  • Pyruvate Dehydrogenase (Lipoamide)*
  • Pyruvate Dehydrogenase Complex / genetics*

Substances

  • Pyruvate Dehydrogenase Complex
  • Pyruvate Dehydrogenase (Lipoamide)
  • pyruvate dehydrogenase E1alpha subunit