Plasma free fatty acids in mitochondrial fatty acid oxidation defects

Clin Chim Acta. 1997 Nov 28;267(2):143-54. doi: 10.1016/s0009-8981(97)00130-7.

Abstract

Plasma free fatty acid profiles from patients suffering from various mitochondrial beta-oxidation deficiencies were analyzed by gas chromatography-mass spectrometry. cis-4-Decenoic acid (10:1n-6) in medium-chain acyl-CoA dehydrogenase deficiency and cis-5-tetradecenoic acid (14:1n-9) in very-long-chain and 3-hydroxy-long chain acyl-CoA dehydrogenase deficiencies are characteristic of these diseases. In addition, patients with 3-hydroxy-long chain acyl-CoA dehydrogenase deficiency showed a specific increase of 3-hydroxy-long chain fatty acids. The study of plasma free fatty acids is an easy and useful methodology for the diagnostic approach of some mitochondrial beta-oxidation deficiencies, allowing us to establish a quick differentiation between medium- and long-chain defects.

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acyl-CoA Dehydrogenase
  • Acyl-CoA Dehydrogenase, Long-Chain / deficiency*
  • Adolescent
  • Adult
  • Carnitine / blood
  • Carnitine / urine
  • Child
  • Child, Preschool
  • Fatty Acids / metabolism*
  • Fatty Acids, Nonesterified / blood*
  • Female
  • Humans
  • Infant
  • Male
  • Mass Spectrometry
  • Mitochondria / enzymology
  • Mitochondria / metabolism*
  • Oxidation-Reduction

Substances

  • Fatty Acids
  • Fatty Acids, Nonesterified
  • Acyl-CoA Dehydrogenase
  • Acyl-CoA Dehydrogenase, Long-Chain
  • Carnitine