Medium-Chain Acyl-Coenzyme A Dehydrogenase (MCAD) deficiency (OMIM # 201450) is an autosomal recessive disorder of fatty acid oxidation. Fifty-four percent of affected individuals are homozygous for a common mutation, K304E, in the ACADM gene (OMIM # 607008). Forty-three percent of affected individuals are heterozygous for the K304E mutation and have a rarer mutation in the second allele.

Our collection of MCAD deficiency cell lines came from eleven individuals, ten of whom are affected. The affected individuals range in age from eight months to sixteen years. Eight of the ten affected individuals are homozygous for the K304E mutation in the ACADM gene. One affected individual has one copy of the K304E mutation in the ACADM gene and a second unknown mutation. Mutation data are not available on the remaining individual.