Increased urinary excretion of analogs of Krebs cycle metabolites and arabinose in two brothers with autistic features.
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.
Shaw
W
W
Department of Pathology, Children's Mercy Hospital, University of Missouri-Kansas City 64108, USA.
Kassen
E
E
Chaves
E
E
D001089:Arabinose / Q000652:urine*; D001321:Autistic Disorder / Q000652:urine*; D002648:Child; D002951:Citrates / Q000652:urine; D019343:Citric Acid; D002952:Citric Acid Cycle; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D007656:Ketoglutaric Acids / Q000652:urine; D008293:Malates / Q000652:urine; D008297:Male; D013058:Mass Spectrometry; D008970:Molecular Weight; D013644:Tartrates / Q000652:urine
D002951:Citrates; D007656:Ketoglutaric Acids; D008293:Malates; D013644:Tartrates; D019343:Citric Acid; D001089:Arabinose; C011729:citramalate; C029768:tartaric acid