Biochemical and molecular diagnosis of lipoamide dehydrogenase deficiency in a North American Ashkenazi Jewish family.
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.
Sansaricq
C
C
Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA. claude.sansaricq@mssm.edu
Pardo
S
S
Balwani
M
M
Grace
M
M
Raymond
K
K
D017668:Age of Onset; D002675:Child, Preschool; D008058:Dihydrolipoamide Dehydrogenase / Q000172:deficiency* / Q000235:genetics; D005091:Exons; D006579:Heterozygote; D006801:Humans; D007585:Jews; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000208:ethnology / Q000652:urine; D009154:Mutation; D009656:North America
D008058:Dihydrolipoamide Dehydrogenase