Pyruvate decarboxylase deficiency in a patient with Leigh's encephalomyelopathy.

Abstract

A 23-mo.-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 CSF. Oral administration of thiamine-HCl [vitamin B2] and lipoic acid was noneffective and he died 7 mo 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. Pyruvate decarboxylase deficiency is one of the causes of Leigh''s disease.