The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts

J Clin Invest. 1986 Jul;78(1):205-13. doi: 10.1172/JCI112553.

Abstract

The multiple acyl-coenzyme A (CoA) dehydrogenation disorders (MAD) include severe (S) and mild (M) variants, glutaric aciduria type II (MAD:S) and ethylmalonic-adipic aciduria (MAD:M). Intact MAD:M mitochondria oxidized [1-14C]octanoate, [1-14C]palmityl-CoA, and [1,5-14C]glutarate at 20-46% of control levels; MAD:S mitochondria oxidized these three substrates at 0.4-18% of control levels. In MAD:M mitochondria, acyl-CoA dehydrogenase (ADH) activities were similar to control, whereas MAD:S ADH activities ranged from 38% to 73% of control. Electron transfer flavoprotein (ETF) activities in five MAD:M cell lines ranged from 29 to 51% of control (P less than 0.01); ETF deficiency was the primary enzymatic defect in two MAD:M lines. In four MAD:S patients, ETF activities ranged from 3% to 6% of control (P less than 0.001); flavin adenine dinucleotide addition increased residual ETF activity from 4% to 21% of control in a single MAD:S line (P less than 0.01). Three MAD:S patients had ETF activities ranging from 33 to 53% of control; other investigators found deficient ETF-dehydrogenase activity in these MAD:S and three of our MAD:M cell lines.

Publication types

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

MeSH terms

  • Acyl Coenzyme A / metabolism
  • Acyl-CoA Dehydrogenases / metabolism*
  • Adipates / urine*
  • Animals
  • Caprylates / metabolism
  • Electron Transport
  • Electron-Transferring Flavoproteins
  • Fatty Acids / metabolism*
  • Fibroblasts / metabolism
  • Flavin-Adenine Dinucleotide / metabolism
  • Flavoproteins / metabolism
  • Glutarates / urine*
  • Lipid Metabolism, Inborn Errors / enzymology*
  • Liver / enzymology
  • Malonates / urine*
  • Mitochondria / enzymology
  • Palmitoyl Coenzyme A / metabolism
  • Succinates / metabolism
  • Succinic Acid
  • Swine

Substances

  • Acyl Coenzyme A
  • Adipates
  • Caprylates
  • Electron-Transferring Flavoproteins
  • Fatty Acids
  • Flavoproteins
  • Glutarates
  • Malonates
  • Succinates
  • octanoyl-coenzyme A
  • Flavin-Adenine Dinucleotide
  • Palmitoyl Coenzyme A
  • ethylmalonic acid
  • adipic acid
  • Succinic Acid
  • Acyl-CoA Dehydrogenases
  • octanoic acid