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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 occasionally associated with lactic and ketoacidemia or with myoglobinuria. Two patients who presented neonatally...

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PMID: 9934985

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