Biochemical and molecular diagnosis of lipoamide dehydrogenase deficiency in a North American Ashkenazi Jewish family

J Inherit Metab Dis. 2006 Feb;29(1):203-4. doi: 10.1007/s10545-006-0175-5.


A late-onset presentation of lipoamide dehydrogenase (E3) deficiency is described in a North American Ashkenazi Jewish (AJ) family. Diagnosis was made by urine organic acid and molecular analyses.

Publication types

  • Case Reports

MeSH terms

  • Age of Onset
  • Child, Preschool
  • Dihydrolipoamide Dehydrogenase / deficiency*
  • Dihydrolipoamide Dehydrogenase / genetics
  • Exons
  • Heterozygote
  • Humans
  • Jews
  • Male
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / ethnology
  • Metabolism, Inborn Errors / urine
  • Mutation
  • North America


  • Dihydrolipoamide Dehydrogenase