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NEUROLOGY 1979;29:1578-1583
© 1979 American Academy of Neurology

Fatal ataxic encephalopathy and carnitine acetyltransferase deficiency

A functional defect of pyruvate oxidation?

S. DiDonato, M. Rimoldi, A. Moise, B. Bertagnoglio and G. Uziel

From the Istituto Neurologico, Milan, Italy.

A 3-year 8-month-old girl died after 14 months of illness characterized by episodes of intermittent ataxia associated with oculomotor palsy, hypotonia, mental confusion, and disturbances of consciousness. In the last 4 months of life, there were signs of liver dysfunction. Pyruvate dehydrogenase and a-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. It is proposed that a functional defect of acetyl-coenzyme A (acetyl-CoA) utilization in brain mitochondria accompanies the carnitine acetyltransferase deficiency.

This work has been partially supported by a grant from the Muscular Dystrophy Association of America.

Address reprint requests to Dr. DiDonato, Laboratory of Neurometabolic Diseases, Istituto Neurologico "C. Besta," Via Celoria 11, 20133 Milan, Italy.

Accepted for publication May 9, 1979.




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