Identification of organic acids as potential biomarkers in the urine of autistic children using gas chromatography/mass spectrometry

J Chromatogr B Analyt Technol Biomed Life Sci. 2014 Sep 1;966:70-6. doi: 10.1016/j.jchromb.2014.01.041. Epub 2014 Feb 2.


There is a need to identify metabolic phenotypes in autism as they might each require unique approaches to prevention. Biological markers can help define autism subtypes and reveal potential therapeutic targets. The aim of the study was to identify alterations of small molecular weight compounds and to find potential biomarkers. Gas chromatography/mass spectrometry was employed to evaluate major metabolic changes in low molecular weight urine metabolites of 14 children with autism spectrum disorders vs. 10 non-autistic subjects. The results prove the usefulness of an identified set of 21 endogenous compounds (including 14 organic acids), whose levels are changed in diseased children. Gas chromatography/mass spectrometry method combined with multivariate statistical analysis techniques provide an efficient way of depicting metabolic perturbations of diseases, and may potentially be applicable as a novel strategy for the noninvasive diagnosis and treatment of autism.

Keywords: Autism; Biomarkers; Gas chromatography–mass spectrometry; Organic acids; Principal component analysis.

MeSH terms

  • Amino Acids / urine*
  • Autistic Disorder / urine*
  • Biomarkers / urine
  • Carboxylic Acids / urine*
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Female
  • Gas Chromatography-Mass Spectrometry / methods*
  • Humans
  • Male
  • Principal Component Analysis
  • Sugar Alcohols / urine


  • Amino Acids
  • Biomarkers
  • Carboxylic Acids
  • Sugar Alcohols