General (medium-chain) acyl-CoA dehydrogenase deficiency (non-ketotic dicarboxylic aciduria): quantitative urinary excretion pattern of 23 biologically significant organic acids in three cases

Clin Chim Acta. 1983 Aug 15;132(2):181-91. doi: 10.1016/0009-8981(83)90246-2.

Abstract

Urinary analysis of the pattern of 23 organic acid metabolites derived from fatty acids in three patients with general (medium-chain) acyl-CoA dehydrogenase deficiency was performed. Although there exist quantitative differences in the excreted amounts of the different metabolites in the three patients the qualitative picture was the same. The excretion of adipic, suberic and sebacic acids was substantial, whereas that of dodecanedioic acid was within or just above control limit. The monounsaturated C6-C10-dicarboxylic acid excretion was only marginally or not increased. 5-OH-hexanoic acid and hexanoylglycine were excreted in excessive amounts, whereas 7-OH-octanoic acid, 9-OH-decanoic acid, octanoylglycine and decanoylglycine were excreted in limited amounts. The excreted amounts of 6-OH-hexanoic, 8-OH-octanoic and 10-OH-decanoic acids were not or only marginally elevated compared to controls. In one of the patients the excretion of ethylmalonic and methylsuccinic acids was enhanced, whereas the excretion of these two acids in the two other patients was comparable to that in controls. The urinary excretion of hexanoic, octanoic, decanoic and dodecanoic acids was just a little above the control limit, whereas the esterified hexanoic and octanoic acids were excreted in appreciable amounts. It is argued that the microsomal omega- and omega-1-oxidation systems are involved in the dicarboxylic and omega-1-OH-monocarboxylic acids formation at C10 and C12 level and that the C8-C6-dicarboxylic and omega-1-OH-monocarboxylic acids are formed from higher chained acids by beta-oxidation in both mitochondria and peroxisomes.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acyl-CoA Dehydrogenase
  • Acyl-CoA Dehydrogenases / deficiency*
  • Adipates / urine
  • Caproates / urine
  • Caprylates* / urine
  • Carboxylic Acids / urine*
  • Child, Preschool
  • Decanoic Acids / urine
  • Dicarboxylic Acids / urine
  • Female
  • Glycine / analogs & derivatives
  • Glycine / urine
  • Humans
  • Hydroxy Acids / urine
  • Hydroxybutyrates / urine
  • Infant
  • Male

Substances

  • Adipates
  • Caproates
  • Caprylates
  • Carboxylic Acids
  • Decanoic Acids
  • Dicarboxylic Acids
  • Hydroxy Acids
  • Hydroxybutyrates
  • N-caproylglycine
  • suberic acid
  • adipic acid
  • sebacic acid
  • Acyl-CoA Dehydrogenases
  • Acyl-CoA Dehydrogenase
  • Glycine