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.
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
Substances
-
Dihydrolipoamide Dehydrogenase