title: Biochemical and molecular diagnosis of lipoamide dehydrogenase deficiency in a North American Ashkenazi Jewish family.
abstract: 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.
authors.affiliation: Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA. claude.sansaricq@mssm.edu
authors.forename: C
authors.initials: C
authors.lastname: Sansaricq
authors.forename: S
authors.initials: S
authors.lastname: Pardo
authors.forename: M
authors.initials: M
authors.lastname: Balwani
authors.forename: M
authors.initials: M
authors.lastname: Grace
authors.forename: K
authors.initials: K
authors.lastname: Raymond
mesh_terms: 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
chemical_list: D008058:Dihydrolipoamide Dehydrogenase