Pyruvate decarboxylase deficiency in a patient with Leigh's encephalomyelopathy.
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.
D001921:Brain / Q000201:enzymology / Q000473:pathology; D002262:Carboxy-Lyases / Q000172:deficiency*; D002493:Central Nervous System Diseases / Q000201:enzymology* / Q000473:pathology; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008099:Liver / Q000201:enzymology; D008297:Male; D009336:Necrosis; D011767:Pyruvate Decarboxylase / Q000172:deficiency*
D002262:Carboxy-Lyases; D011767:Pyruvate Decarboxylase