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Pyruvate dehydrogenase deficiency: Molecular basis for intrafamilial heterogeneity

โœ Scribed by Tatsuya Fujii; Rudy N. Van Coster; Susan E. Old; Rosella Medori; Susan Winter; Ruth M. Gubits; Paul M. Matthews; Ruth M. Brown; Garry K. Brown; Hans-Henrik M. Dahl; Dr. Darryl C. De Vivo

Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
656 KB
Volume
36
Category
Article
ISSN
0364-5134

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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 oc