Mutations in the Gene for the E1beta Subunit: A Novel Cause of Pyruvate Dehydrogenase Deficiency

Hum Genet. 2004 Jul;115(2):123-7. doi: 10.1007/s00439-004-1124-8. Epub 2004 May 11.


We describe two unrelated patients with pyruvate dehydrogenase (PDH) deficiency attributable to mutations in the gene encoding the E1beta subunit of the complex. This is a previously unrecognised form of PDH deficiency, which most commonly results from mutations in the X-linked gene for the E1alpha subunit. Both patients had reduced immunoreactive E1beta protein and both had missense mutations in the E1beta gene. Activity of the PDH complex was restored in cultured fibroblasts from both patients by transfection and expression of the normal E1beta coding sequence.

Publication types

  • Case Reports

MeSH terms

  • Humans
  • Infant
  • Male
  • Models, Genetic
  • Models, Molecular
  • Mutation*
  • Protein Structure, Secondary
  • Pyruvate Dehydrogenase Complex / genetics*
  • Pyruvate Dehydrogenase Complex Deficiency Disease / genetics*
  • Transfection


  • Pyruvate Dehydrogenase Complex