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

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Science  01 Jul 1983:
Vol. 221, Issue 4605, pp. 73-75
DOI: 10.1126/science.6857268


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.