摘要目的 探讨干血斑串联质谱对于孤独症谱系障碍的检测价值.方法 随机收集277例孤独症患儿的血样,用液相串联质谱技术进行氨基酸谱与肉碱谱检测.收集疑似阳性患儿的尿液样本做尿气相质谱验证,同时送血样做基因测序.结果 从277例孤独症患儿中检测到疑似阳性者19例(6.9％),其中疑似氨基酸血症6例,疑似有机酸血症9例,疑似脂肪酸血症4例.经重新抽血做基因测序分析,确诊3例苯丙酮尿症、1例同型半胱氨酸血症、1例丙酸血症、1例甲基丙二酸血症、1例戊二酸血症Ⅰ型、1例异戊酸血症、1例精氨酸血症、1例瓜氨酸血症Ⅰ型以及4例原发肉碱缺乏症,确诊发病率为5.1％(14/277).结论上述结果为孤独症和遗传代谢病的共患问题提供了证据.对孤独症患儿进行串联质谱检测对于诊疗有重要的价值.

abstractsObjective To assess the value of dry blood spot tandem mass spectrometry for the diagnosis of autism spectrum disorder (ASD).Methods Peripheral blood samples of 277 autistic children were collected.Their amino acid and carnitine profiles were detected by liquid chromatography tandem mass spectrometry.Urine samples of suspected patients were collected for verification by gas chromatography mass spectrometry.Blood samples were also taken for genetic testing.Results Of the 277 children with ASD,19 (6.9％)were suspected to be with inborn error of metabolism (IEM),which included 6 cases with amino acidemia,9 with organic acidemia and 4 with fatty acidemia.Three cases of phenylketonuria,one case of homocysteinemia,one case of propionemia,one case of methylmalonic acidemia,one case of glutaric acidemia,one case of isovaleric acidemia,one case of argininemia,one case of citrullinemia I and four cases of primary carnitine deficiency were confirmed by genetic testing,which yielded an overall diagnostic rate of 5.1％ (14/277).Conclusion Our result has provided further evidence for the co-occurrence of ASD and IEM.Tandem mass spectrometry has a great value for the diagnosis and treatment of ASD in childhood.