Pyruvate carboxylase activity in subacute necrotizing encephalopathy (Leigh's disease).

Abstract

Leigh's disease is a heterogeneous group of disorders, in which clinical and biochemical features suggest abnormal pyruvate metabolism. In two patients with Leigh's disease, diagnosed according to rigorous clinical, radiographic, and histologic criteria, we tested the hypothesis that pyruvate carboxylase deficiency might be the primary etiology. Pyruvate carboxylase specific activities in extracts of cultured skin fibroblasts from both patients were in the normal range. These results, together with other evidence, suggest that isolated pyruvate carboxylase deficiency does not cause the Leigh's disease phenotype.

• Authors: J Sander, S Packman, B O Berg, H T Hutchison, N Caswell
• Journal: Neurology (Neurology) Vol. 34 Issue 4 Pg. 515-6 (Apr 1984) ISSN: 0028-3878 [Print] United States
• PMID: 6538306 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Succinate Dehydrogenase
• Carboxy-Lyases
• Pyruvate Carboxylase
• Methylmalonyl-CoA Decarboxylase

Topics

• Brain Diseases (enzymology, pathology)
• Carboxy-Lyases (metabolism)
• Cells, Cultured
• Fibroblasts (enzymology)
• Humans
• Methylmalonyl-CoA Decarboxylase
• Necrosis
• Pyruvate Carboxylase (metabolism)
• Skin (cytology)
• Succinate Dehydrogenase (metabolism)
• Syndrome