Amino acid disruptions in autism spectrum disorder: from etiology to therapeutic avenues

Autism Spectrum Disorder (ASD) is a significant health concern in children globally due to its increasing prevalence, complex phenotype manifesting in a range of neuro-developmental disabilities which persist lifelong. As early intervention is linked to improved outcomes and better quality of life in ASD patients, the lack of specific screening and diagnostic criteria is an important concern. Since the discovery of autism in 1943, extensive molecular profiling studies at genomic, transcriptomic, proteomic and metabolomic levels have been conducted but failed to establish or define an ASD signature. Emerging studies emphasizes the implication of metabolic disruption in autism. Hence, the current review focuses on the meta-analysis of metabolome studies to explore and highlight the biochemical intricacies linked to autism specific phenotype. In particular, the review deals with dysregulations in amino acid pathways involved in the complex physiology of ASD. Systemic exploitation of the metabolic profiles in ASD could not only reveal markers with diagnostic significance but also indicate target-oriented treatment avenues.