Abstract: Objective To study the application of tandem mass spectrometry (MS /MS) in the screening of inborn errors of metabolism (IEM) in children with autism spectrum disorder (ASD),to understand the positive rate of IEM and the relationship between ASD and IEM. Methods MS/MS was used to examine 95 blood samples from children diagnosed as ASD with DSM-Ⅳ from Department of Children's Health Care of our hospital from November 2010 to December 2013. Result Only 1 case (1.95%) was diagnosed as with phenylketonuria,1 cases (1.95%) was suspected of suffering from glutaric aciduria type II,other children (96.1%) did not have IEM which was referred to in this study. Conclusions The study supports the relationship between late diagnosed phenylketonuria and ASD,phenylketonuria may be one of the most common IEM associated with autism;There might be certain associations between glutaric aciduria type II and ASD.In children with high risk of IEM,especially those who do not undergo neonatal screening,screening of IEM timely will be of great significance for the overall diagnosis and treatment of ASD.

Key words: autism spectrum disorder, inborn errors of metabolism, tandem mass spectrometry, children

摘要： 目的 应用串联质谱(tandem mass spectrometry,MS /MS)技术进行孤独症谱系障碍(autism spectrum disorder,ASD)儿童的遗传代谢病(inborn errors of metabolism,IEM) 筛查,了解ASD患儿的高发IEM病种,并探讨IEM与儿童ASD之间的关系。方法 利用MS/MS技术对2010年11月-2013年12月于复旦大学附属儿科医院儿童保健科门诊就诊、根据DSM-Ⅳ诊断标准确诊的95名ASD患儿的血液样本进行IEM筛查。结果 1名(1.95%)患儿存在苯丙酮尿症,1名(1.95%)患儿戊二酸血症-II型不能除外,其他患儿(96.1%)均不存在本研究所涉及的IEM。结论 本研究为晚诊断的苯丙酮尿症与ASD之间的关联提供了案例支持,苯丙酮尿症可能是儿童ASD的共患病之一;戊二酸血症-II型与ASD之间可能存在一定联系。对于IEM高危患儿、特别是生后未行新生儿筛查的ASD患儿,及时地进行IEM筛查对于全面诊断和治疗ASD有着重要意义。

关键词: 孤独症谱系障碍, 遗传代谢病, 串联质谱技术, 儿童