1982 年 137 巻 4 号 p. 379-386
OHTAKE, M., TAKADA, G., MIYABAYASHI, S., ARAI, N., TADA, K. and MORINAGA, S. Pyruvate Decarboxylase Deficiency in a Patient with Leigh's Encephalomyelopathy. Tohoku J. exp. Med., 1982, 137 (4), 379-386 - A 23-month-old boy with progressive muscular hypotonia and mental and motor deterioration was described. Four days after the admission he had a respiratory arrest and required the care in a respirator thereafter. Laboratory examinations showed metabolic acidosis and high levels of pyruvate, lactate and alanine in blood and cerebrospinal fluid. Oral administration of thiamine-HCl and lipoic acid was noneffective and he died 7 months after the admission. Autopsy findings were compatible with subacute necrotizing encephalomyelopathy (Leigh's disease). The activity of pyruvate decarboxylase in autopsy samples was not detectable and that in fibroblasts was 9% of that in control cell lines. The present study confirmed that pyruvate decarboxylase deficiency is one of the causes of Leigh's disease. - pyruvate decarboxylase deficiency; Leigh's diseasec
