A metabolome study on 90 autism spectrum disorder patients by mass spectrometry

Abstract

Pathogenesis of autism spectrum disorder (ASD) remains unclear and there are still no proper clinical diagnosis biomarkers or effective medical therapy methods for ASD. Previous studies have implicated physiological and metabolic abnormalities in ASD. Here we performed a metabolome analysis of urine and dry blood spot samples from 90 ASD patients and 90 age-matched controls from China using mass spectrometry. To our certain knowledge, this is the first study investigating ASD patients’ urinary and blood metabolites at the same time. Abnormalities in urinary and blood amino acids, organic acids and acylcarnitines showed a similar tendency to the reported physiological and metabolic abnormalities in ASD patients. This thesis aimed at detailing the metabolome information of Chinese ASD patients, hoping to help the study of ASD pathology, quantitative diagnosis or therapy methods.