Fatty acid beta-oxidation in leukocytes from control subjects and medium-chain acyl-CoA dehydrogenase deficient patients

Biochim Biophys Acta. 1992 Jan 16;1138(1):80-4. doi: 10.1016/0925-4439(92)90155-g.

Abstract

In recent years an increasing number of inherited diseases in man have been identified in which there is an impairment in mitochondrial fatty acid oxidation. Diagnosis is usually done by gas-chromatographic analysis of urine, which may give difficulties, since urinary abnormalities may only be present intermittently. We therefore studied whether leukocytes could be used to study mitochondrial beta-oxidation directly. The results described herein show that leukocytes are able to beta-oxidize octanoate and palmitate. Furthermore, clear abnormalities in octanoate beta-oxidation were found in leukocytes from patients with an established deficiency of medium-chain acyl-CoA dehydrogenase, suggesting that measurement of octanoate and palmitate beta-oxidation in leukocytes may contribute to rapid diagnosis of medium-chain acyl-CoA dehydrogenase deficiency and presumably other mitochondrial beta-oxidation disorders.

MeSH terms

  • 3-Hydroxybutyric Acid
  • Acyl-CoA Dehydrogenase
  • Acyl-CoA Dehydrogenases / deficiency*
  • Acyl-CoA Dehydrogenases / urine
  • Caprylates / metabolism
  • Fatty Acids / metabolism*
  • Humans
  • Hydroxybutyrates / metabolism
  • Leukocytes / enzymology
  • Leukocytes / metabolism*
  • Lipid Metabolism, Inborn Errors / diagnosis
  • Lipid Metabolism, Inborn Errors / enzymology*
  • Mitochondria / metabolism
  • Oxidation-Reduction / drug effects
  • Palmitates / metabolism
  • Time Factors

Substances

  • Caprylates
  • Fatty Acids
  • Hydroxybutyrates
  • Palmitates
  • Acyl-CoA Dehydrogenases
  • Acyl-CoA Dehydrogenase
  • octanoic acid
  • 3-Hydroxybutyric Acid