FATAL ATAXIC ENCEPHALOPATHY AND CARNITINE ACETYLTRANSFERASE DEFICIENCY - FUNCTIONAL DEFECT OF PYRUVATE OXIDATION

A 3 yr 8 mo. old girl died after 14 mo. of illness characterized by episodes of intermittent ataxia associated with oculomotor palsy, hypotonia, mental confusion and disturbances of consciousness. In the last 4 mo. of life, there were signs of liver dysfunction. Pyruvate dehydrogenase and .alpha.-ketoglutarate dehydrogenase activities were normal in autopsy brain specimens and in cultured fibroblasts from the patient. Carnitine acetyltransferase was deficient in liver, brain, kidney and cultured fibroblasts. Medium- and long-chain carnitine acyltransferase activities were normal. A functional defect of acetyl-coenzyme A (acetyl-CoA) utilization in brain mitochondria that accompanies the carnitine acetyltransferase deficiency is suggested.