Increased urinary excretion of analogs of Krebs cycle metabolites and arabinose in two brothers with autistic features

Clin Chem. 1995 Aug;41(8 Pt 1):1094-104.


A marked increase in analogs of Krebs cycle metabolites was found in the urine of two brothers with autistic features. These metabolites included citramalic, tartaric (3-OH-malic), and 3-oxoglutaric acids and compounds tentatively identified as a citric acid analog and partially identified as a phenylcarboxylic acid by the fragmentation pattern of the trimethylsilyl (TMS) derivatives of the compounds and mass shifts of the same compounds derivatized with perdeuterated N,O-bis(trimethylsilyl)trifluoroacetamide. The molecular mass of the TMS derivative of the tentatively identified citric acid analog was 596 Da, based on a finding of a significant M - 15 ion at m/z 581. The citric acid analog was excreted in quantities as high as 137 mmol/mol creatinine, based on the response factor of citric acid as a surrogate calibrator. A carbohydrate with a retention time and mass spectrum identical to arabinose was also found in high concentrations in the urine of these brothers.

Publication types

  • Case Reports

MeSH terms

  • Arabinose / urine*
  • Autistic Disorder / urine*
  • Child
  • Citrates / urine
  • Citric Acid
  • Citric Acid Cycle*
  • Gas Chromatography-Mass Spectrometry
  • Humans
  • Ketoglutaric Acids / urine
  • Malates / urine
  • Male
  • Mass Spectrometry
  • Molecular Weight
  • Tartrates / urine


  • Citrates
  • Ketoglutaric Acids
  • Malates
  • Tartrates
  • Citric Acid
  • Arabinose
  • citramalate
  • tartaric acid