STUDIES ON PYRUVATE CARBOXYLASE, PYRUVATE DECARBOXYLASE AND LIPOAMIDE DEHYDROGENASE IN SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY

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Abstract
In 2 autopsy-proven cases of subacute necrotizing encephalomyelopathy (SNE, Leigh''s Disease) the activities of pyruvate carboxylase, pyruvate decarboxylase and lipoamide dehydrogenase were investigated in cultured human fibroblasts. Normal activities of pyruvate carboxylase and lipoamide dehydrogenase were found in both cases. The activity of pyruvate decarboxylase was low in one of the cases (P < 0.05), while the activity in the other was within normal limits. The concentrations of alanine, lactate and pyruvate were normal or only slightly increased. The relationship between SNE and a defect in pyruvate metabolism is under discussion. The general assumption that pyruvate carboxylase deficiency is the cause of SNE is not in agreement with results or the present literature. Pyruvate decarboxylase deficiency may in some cases contribute to the development of SNE.