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.
D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000378:metabolism*; D002087:Butyrates / Q000378:metabolism; D020148:Butyric Acid; D002210:Caprylates / Q000378:metabolism*; D003998:Dicarboxylic Acids / Q000652:urine*; D005347:Fibroblasts / Q000201:enzymology*; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000201:enzymology / Q000378:metabolism*; D008928:Mitochondria / Q000378:metabolism; D010084:Oxidation-Reduction
D002087:Butyrates; D002210:Caprylates; D003998:Dicarboxylic Acids; D020148:Butyric Acid; D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase; C031492:octanoic acid