Pristanic acid does not accumulate in peroxisomal acyl-CoA oxidase deficiency: evidence for a distinct peroxisomal pristanyl-CoA oxidase

J Inherit Metab Dis. 1991;14(5):681-4. doi: 10.1007/BF01799934.

Abstract

The concentration of pristanic acid was measured in plasma from a patient with an isolated peroxisomal very long chain fatty acid (VLCFA) acyl-CoA oxidase deficiency, a defect in peroxisomal beta-oxidation resulting in accumulation of VLCFA in plasma and tissues. Although peroxisomes are believed to be involved in pristanic acid beta-oxidation, the pristanic acid level in the patient's plasma was within the control range. This finding provides evidence for the existence of a pristanyl-CoA oxidase distinct from the specific trihydroxycholestanoyl-CoA and VLCFA acyl-CoA oxidases.

MeSH terms

  • Acyl-CoA Oxidase
  • Fatty Acids / metabolism*
  • Humans
  • Microbodies / enzymology*
  • Oxidation-Reduction
  • Oxidoreductases / deficiency*
  • Oxidoreductases / metabolism*
  • Phytanic Acid / blood

Substances

  • Fatty Acids
  • Phytanic Acid
  • pristanic acid
  • Oxidoreductases
  • pristanoyl-CoA oxidase
  • Acyl-CoA Oxidase