Hyperalaninemia with Pyruvicemia in a Patient Suggestive of Leigh's Encephalomyelopathy

Abstract

A three-year-old girl with clinical pictures suggestive of Leigh's encephalomyelopathy was described. The patient showed a persistent elevation of pyruvate and lactate in blood and an occasional increase in serum alanine. Serum alanine was found to increase in proportion to blood pyruvate level. Pyruvate level in the cerebrospinal fluid was also elevated. In liver tissue obtained by biopsy there were decrease in the activity of pyruvate carboxylase and normal activity of pyruvate decarboxylase. The cultured skin fibroblasts revealed no significant activity of pyruvate carboxylase in either the patient or controls and no difference in the activity of pyruvate decarboxylase between the patient and controls.