Dicarboxylic aciduria: deficient [1-14C]octanoate oxidation and medium-chain acyl-CoA dehydrogenase in fibroblasts

Dicarboxylic aciduria, an inborn error of metabolism in man, is thought to be caused by defective beta-oxidation of six-carbon to ten-carbon fatty acids. Oxidation of [1-14C]octanoate was impaired in intact fibroblasts from three unrelated patients with dicarboxylic aciduria (19 percent of control), as was the activity of medium-chain (octanoyl-)acyl-CoA dehydrogenase in the supernatants of sonicated fibroblast mitochondria (5 percent of control). These data confirm that dicarboxylic aciduria is caused by an enzyme defect in the beta-oxidation cycle.