Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency

Mol Genet Metab. 2010 Jul;100(3):296-9. doi: 10.1016/j.ymgme.2010.04.004. Epub 2010 Apr 14.

Abstract

Pyruvate dehydrogenase complex deficiency is a clinically heterogeneous disorder. Most cases are due to mutations in an X-linked PDHA1 gene encoding the E1alpha subunit of the multienzyme complex. Females with mutations in the PDHA1 gene may be asymptomatic or have a milder phenotype as a result of skewed X-inactivation, while males are typically more severely affected. We report a case of PDHA1 mosaicism in a male patient who had a milder phenotype.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Substitution
  • Base Sequence
  • Child, Preschool
  • Chromosomes, Human, X / genetics
  • DNA Mutational Analysis
  • Female
  • Humans
  • Male
  • Mosaicism*
  • Mutation, Missense*
  • Phenotype
  • Pyruvate Dehydrogenase (Lipoamide) / deficiency*
  • Pyruvate Dehydrogenase (Lipoamide) / genetics*
  • Pyruvate Dehydrogenase Complex Deficiency Disease / enzymology*
  • Pyruvate Dehydrogenase Complex Deficiency Disease / genetics*

Substances

  • Pyruvate Dehydrogenase (Lipoamide)
  • pyruvate dehydrogenase E1alpha subunit