Searching for biomarkers candidates of autism spectrum disorder with metabolic disorders. Evidences for a possible role of proteins and amino acids content in urine.

Autism spectrum disorder (ASD) is a developmental disorder characterized by conditions that involve areas of social interaction, communication and behavior as well as sensory sensitivity. At the beginning of the eighties researchs indicated the ASD of association with changes in protein metabolism and amino acids. To identify protein and amino acid profile in the urine of children with ASD and compare with a control group of urine samples. Prospective cross-sectional study, with a case-control design. The cases were children (n = 22) with ASD, male in the age group of 3 to 10 years who were compared with children (n = 22) with typical development, matched by sex and age. The quantification of total proteins was performed using the Bradford method and determination of the amount and amino acid composition by ultra-efficient liquid chromatography (CLUE). The results showed changes in the concentration of protein and amino acids arginine, glycine, leucine, threonine, aspartic acid, alanine, histidine, tyrosine in the urine of children with ASD. The total protein concentration and amino acid profile in urine are good candidates for biomarkers for individuals with ASD, but for this to be concrete, there is a need to develop studies with a larger number of participants.自闭症谱系障碍（Autism Spectrum Disorder, ASD）是一类以社交互动、沟通障碍、行为异常及感官感知敏感为特征的发育障碍性疾病。早在20世纪80年代初，已有研究表明自闭症谱系障碍与蛋白质代谢及氨基酸水平的异常改变存在关联。本研究旨在明确自闭症患儿尿液中的蛋白质与氨基酸谱，并与对照组尿液样本进行对比分析。本研究采用病例对照设计，属于前瞻性横断面研究。病例组为22名年龄介于3至10岁的男性自闭症患儿，对照组为22名性别与年龄均与之匹配的典型发育儿童。采用布拉德福德（Bradford）法对总蛋白进行定量检测，通过超高效液相色谱（Ultra-High Performance Liquid Chromatography, CLUE）对氨基酸含量及组成进行测定。结果显示，自闭症患儿尿液中的总蛋白浓度及精氨酸、甘氨酸、亮氨酸、苏氨酸、天冬氨酸、丙氨酸、组氨酸、酪氨酸等氨基酸的水平存在异常改变。尿液总蛋白浓度与氨基酸谱可作为自闭症患者潜在的生物标志物，但要验证这一结论的可靠性，仍需开展更大样本量的相关研究。