Long-chain acyl-coenzyme A dehydrogenase deficiency: biochemical studies in fibroblasts from three patients

Pediatr Res. 1988 Jun;23(6):603-5. doi: 10.1203/00006450-198806000-00015.

Abstract

We studied fibroblasts from three patients with long-chain acyl-coenzyme A dehydrogenase (LCADH) deficiency; siblings H.C. and J.C. had milder clinical phenotypes than unrelated patient R-1. In H.C., J.C., and R-1 oxidation of [9,10(n)-3H]palmitate was 50, 48, and 28% of control, respectively, with R-1 having significantly less activity than H.C. and J.C. (p less than 0.05). Assays of mitochondrial short-chain and medium-chain acyl-coenzyme A dehydrogenases were normal in H.C. and J.C. However, mitochondrial LCADH activities in all three ranged from 17 to 21% of control. Flavin adenine dinucleotide addition increased LCADH activities in all three to 27-36% of control. In the presence of monospecific medium-chain acyl-coenzyme A dehydrogenase antiseria, LCADH activity decreased 17% in controls, and fell to less than or equal to 11% of control in J.C. and R-1. The heterogeneity observed in the [3H]palmitate oxidation studies was not explained by differences in LCADH activities under any assay condition.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Acyl-CoA Dehydrogenase, Long-Chain
  • Adolescent
  • Adult
  • Cells, Cultured
  • Fatty Acid Desaturases / deficiency*
  • Fatty Acid Desaturases / metabolism
  • Female
  • Fibroblasts / enzymology*
  • Flavin-Adenine Dinucleotide / metabolism
  • Humans
  • Mitochondria / enzymology
  • Palmitates / metabolism
  • Phenotype

Substances

  • Palmitates
  • Flavin-Adenine Dinucleotide
  • Fatty Acid Desaturases
  • Acyl-CoA Dehydrogenase, Long-Chain