Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews.

Article

Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews.

American journal of medical genetics - 15 Jan 1999

Shaag A, Saada A, Berger I, Mandel H, Joseph A, Feigenbaum A, Elpeleg O N

Abstract excerpt

We studied 13 patients with lipoamide dehydrogenase (LAD) deficiency, originating from seven Ashkenazi Jewish families. Their disease was characterized by recurrent attacks of vomiting, abdominal pain, and encephalopathy accompanied by elevated liver transaminases, prolonged prothrombin time, and...

Topics

Adult
Base Sequence
Child, Preschool
DNA Probes
Dihydrolipoamide Dehydrogenase
Female
Humans
Infant, Newborn
Jews
Male
Metabolism, Inborn Errors
Mitochondria, Muscle
Mutation
Pedigree

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