Dicarboxylic Aciduria: Deficient [1-$^{14}$C]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 $-oxidation of six-carbon to ten-carbon fatty acids. Oxidation of [1-$^{14}$C]octanoate was impaired in intact fibroblasts from three unrelated patients with dicarboxylic aciduria (19 percent of...

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Published in:Science (American Association for the Advancement of Science) 1983-07, Vol.221 (4605), p.73-75
Main Authors: Rhead, William J., Amendt, Brad A., Fritchman, Kathie S., Felts, Sara J.
Format: Article
Language:English
Subjects:
Acyl-CoA Dehydrogenase
Acyl-CoA Dehydrogenases - metabolism
Biochemistry
Butyrates - metabolism
Butyric Acid
Caprylates - metabolism
Cell lines
Dehydrogenases
Dicarboxylic acids
Dicarboxylic Acids - urine
Enzymes
Fatty acids
Fibroblasts
Fibroblasts - enzymology
Humans
Lipid metabolism
Lipid Metabolism, Inborn Errors - enzymology
Lipid Metabolism, Inborn Errors - metabolism
Liver
Metabolic diseases
Mitochondria
Mitochondria - metabolism
Oxidation
Oxidation-Reduction
Physiological aspects
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Summary:Dicarboxylic aciduria, an inborn error of metabolism in man, is thought to be caused by defective $\beta $-oxidation of six-carbon to ten-carbon fatty acids. Oxidation of [1-$^{14}$C]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.
ISSN:0036-8075
1095-9203
DOI:10.1126/science.6857268