MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY AND FATAL VALPROATE TOXICITY

A boy with delayed psychomotor development, attention deficit disorder , and therapy-resistant epilepsy was treated with valproate. The patie nt died of liver failure after 4 months of valproate treatment. Postmo rtem investigation of cultured fibroblasts suggested medium chain acyl -CoA dehydrogenase deficiency, an unexpected finding since the boy had not presented typical manifestations of this disease. Because medium chain acyl-CoA dehydrogenase is an important enzyme in the beta-oxidat ion of fatty acids, our patient probably had a genetically reduced tol erance to valproate. This drug should be omitted in the treatment of s eizures in patients with possible medium chain acyl-CoA dehydrogenase deficiency. (C) 1997 by Elsevier Science Inc.