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A deficiency of pyruvate carboxylase in Friedreich's ataxia

✍ Scribed by Dijkstra, U.J.; Willems, J.L.; Joosten, E.M.G.; Gabreëls, F.J.M.

Book ID
121774653
Publisher
Elsevier Science
Year
1982
Tongue
English
Weight
91 KB
Volume
84
Category
Article
ISSN
0303-8467

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Biochemical studies in liver, muscle, and cultured fibroblasts were carried out in seven patients with Friedreich ataxia. Lowered activity of pyruvate carboxylase was shown in liver and cultured fibroblasts in all instances.

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## Abstract Normal activity of the pyruvate dehydrogenase complex was found in platelet‐enriched preparations from two siblings with Friedreich's ataxia who had been reported previously as being deficient in this enzyme.