Early diagnosis and treatment for autism spectrum disorder (ASD) pose challenges. The current diagnostic approach for ASD is mainly clinical assessment of patient behaviors. Biomarkers-based identification of ASD would be useful for pediatricians. Currently, there is no specific treatment for ASD, and evidence for the efficacy of alternative treatments remains inconclusive. The prevalence of ASD is increasing, and it is becoming more urgent to find the pathogenesis of such disorder. Metabolomic studies have been used to deeply investigate the alteration of metabolic pathways, including those associated with ASD. Metabolomics is a promising tool for identifying potential biomarkers and possible pathogenesis of ASD. This review comprehensively summarizes and discusses the abnormal metabolic pathways in ASD children, as indicated by evidence from metabolomic studies in urine and blood. In addition, the targeted interventions that could correct the metabolomic profiles relating to the improvement of autistic behaviors in affected animals and humans have been included. The results revealed that the possible underlying pathophysiology of ASD were alterations of amino acids, reactive oxidative stress, neurotransmitters, and microbiota-gut-brain axis. The potential common pathways shared by animal and human studies related to the improvement of ASD symptoms after pharmacological interventions were mammalian-microbial co-metabolite, purine metabolism, and fatty acid oxidation. The content of this review may contribute to novel biomarkers for the early diagnosis of ASD and possible therapeutic paradigms.

自闭症谱系障碍（ASD）的早期诊断和治疗面临着挑战。目前自闭症谱系障碍的诊断方法主要是对患者行为的临床评估。基于生物标志物的自闭症谱系障碍 (ASD) 识别对于儿科医生来说非常有用。目前，自闭症谱系障碍（ASD）尚无特效治疗方法，替代疗法的疗效证据仍无定论。自闭症谱系障碍（ASD）的患病率正在增加，寻找这种疾病的发病机制变得更加紧迫。代谢组学研究已被用来深入研究代谢途径的改变，包括与 ASD 相关的代谢途径的改变。代谢组学是一种很有前景的工具，可用于识别 ASD 的潜在生物标志物和可能的发病机制。本综述全面总结并讨论了自闭症谱系障碍儿童的异常代谢途径，尿液和血液代谢组学研究的证据表明。此外，还包括可以纠正与改善受影响动物和人类自闭症行为相关的代谢组学特征的有针对性的干预措施。结果表明，自闭症谱系障碍的潜在病理生理学可能是氨基酸、反应性氧化应激、神经递质和微生物群-肠-脑轴的改变。动物和人类研究中与药物干预后 ASD 症状改善相关的潜在共同途径是哺乳动物-微生物共代谢物、嘌呤代谢和脂肪酸氧化。本综述的内容可能有助于为自闭症谱系障碍的早期诊断和可能的治疗范例提供新的生物标志物。