A pilot study of amino acid profiles in boys with autism spectrum disorder and their mothers

Autism Spectrum Disorder (ASD) has been linked to metabolic disturbances in prior research. This pilot study explored plasma and urinary amino acid profiles in a cohort of Jordanian boys with ASD (n = 17) and their mothers, comparing them to neurotypical controls (n = 17). Amino acid concentrations were quantified using Amino Acid Analyzer system, which integrates: High-performance liquid chromatography (HPLC); cation exchange chromatography for separation; and post-column ninhydrin derivatization, l. Our analysis revealed preliminary correlations, including a significant association between urinary arginine levels in children with ASD and their mothers (r = 0.52, <i>p</i> = 0.031). Furthermore, distinct amino acid patterns were observed across ASD severity levels. When evaluating individual amino acids as biomarkers, several showed fair diagnostic accuracy (AUC 0.7-0.8) in internally cross-validated ROC analyses. The observed patterns suggest a complex interplay of genetic factors e.g. Potential inheritance of metabolic enzyme variants, environmental influences (e.g. Shared dietary habits or toxin exposures, and physiological adaptations). These findings suggest that amino acid dysregulation may be involved in ASD and warrant further investigation. However, the small sample size necessitates caution, and these results should be validated in larger, more diverse cohorts to assess their generalizability and potential clinical relevance.