Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts

Biochim Biophys Acta. 1993 Jan 22;1180(3):327-9. doi: 10.1016/0925-4439(93)90058-9.

Abstract

A patient highly suspected of long chain fatty acid oxidation defect was investigated for membrane-bound palmitoyl-CoA dehydrogenation in a membrane extract from skin fibroblasts, using 1% sodium cholate as detergent. The profoundly decreased activity observed is consistent with a deficiency of the newly identified mitochondrial 'very long chain acyl-CoA dehydrogenase'.

Publication types

  • Case Reports

MeSH terms

  • Acyl-CoA Dehydrogenase, Long-Chain / deficiency*
  • Fatty Acids / metabolism*
  • Female
  • Fibroblasts / metabolism*
  • Humans
  • Infant, Newborn
  • Metabolism, Inborn Errors / enzymology*
  • Mitochondria / metabolism*
  • Oxidation-Reduction

Substances

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