Preliminary evaluation of potential urinary organic acid biomarkers with mass spectrometry in children with autism spectrum disorder

Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder affecting brain functions in which qualitative and quantitative problems in communication and behavior are accompanied by restricted interest and repetitive behaviors. There is no laboratory method, or a special test used to diagnose ASD. Here we aimed to report the analysis of the urinary metabolic signatures of ASD patients and healthy subjects to compare the significant changes in the main components of metabolic pathways. Method: A total of 85 male subjects, 42 patients and 43 controls, aged 3–18 years, were included in the study. Urine organic acid levels were analyzed by both GC-MS and LC-MS/MS and the results were recorded. The results obtained were statistically evaluated between the patient and control groups. Results: Certain metabolites involved in branched-chain amino acid metabolism, aromatic amino acid metabolism, tricarboxylic acid cycle, and glycolysis metabolites were found to be significantly reduced in the patient group compared to controls. Conclusions: Our study is the first in the literature in terms of evaluating both GC-MS and LC-MS/MS together and revealing the general map of metabolism. In addition to revealing some new metabolites in ASD patients, it is also important in terms of summarizing which main pathways these metabolites play a role in. Today, with the widespread use of devices that measure with high sensitivity and provide the opportunity to evaluate many analytes at the same time, it will be possible to reveal the pathology of diseases more accurately such as ASD whose etiopathogenesis has not been fully revealed.