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（ASD）是一种以社交互动、沟通和行为以及感觉敏感性领域受累为特征的发育障碍。自二十世纪八十年代初，研究指出自闭症与蛋白质代谢及氨基酸的改变存在关联。本研究旨在通过尿液样本，对自闭症儿童群体的蛋白质和氨基酸谱进行鉴定，并与对照组进行比较。研究采用前瞻性横断面研究设计，并采用病例对照研究方法。病例组包括22名患有自闭症的儿童，年龄在3至10岁之间，男性，并与22名典型发展的儿童进行匹配，匹配条件为性别和年龄。蛋白质总量测定采用Bradford方法，氨基酸含量及组成分析则通过超高效液相色谱（CLUE）完成。研究结果显示，自闭症儿童尿液中的蛋白质及氨基酸（如精氨酸、甘氨酸、亮氨酸、苏氨酸、天冬氨酸、丙氨酸、组氨酸、酪氨酸）浓度发生改变。尿液中的总蛋白质浓度和氨基酸谱可作为自闭症个体生物标志物的良好候选，但为了得出确凿结论，仍需开展更大规模参与者的研究。