Abstract: Objective To explore the value of tandem mass spectrometry analysis in diagnosis of high risk children with inborn errors of metabolism(IEM).Methods From January 2010 to December 2013,617 cases who were suspected inborn errors of metabolism were collected to be tested by tandem mass spectrometry (MS/MS).Screening positive cases for the urinary metabolic screening or genetic testing had been confirmed,and the related clinical data were analyzed and summarized in this paper.Results In the 617 cases,a total of 24 cases (3.9%) were diagnosed with 10 kinds of inborn errors of metabolism.4 cases (16.7%) were amino acid metabolic diseases in which citrullinemia was common.14 cases (58.3%) were organic acid metabolism disorder in which methylmalonic acidemia was common.Medium-chainacyl-CoA dehydrogenase deficiency (2 cases) and mitochondrial encephalomyopathy (2 cases) were common in fatty acid dysoxidation (6 cases 25%).Conclusion Pediatricians should attach importance to the utilization of MS/MS in detection of inherited metabolic disorders in order to early diagnosis and early intervention.

Key words: inborn errors of metabolism, tandem mass spectrometry (MS/MS), children

摘要： 目的 研究末梢血串联质谱分析对于遗传代谢病高危儿童的诊断价值。方法 本研究自2010年1月-2013年12月收集临床疑似遗传代谢病的病例617例,对末梢血进行氨基酸、酰基肉碱串联-质谱筛查,对筛查阳性的病例进行了尿代谢筛查或基因检测,得到了确诊。并总结分析了相关临床数据。结果 617例病例共诊断出遗传代谢病10种,共24例,总阳性率3.9%,其中氨基酸代谢病4例(16.7%),以瓜氨酸血症多见(3例,12.5%),有机酸代谢病14例(58.3%),以甲基丙二酸血症多见(8例,33.3%);脂肪酸氧化障碍6例(25%),以中链酰基辅酶A脱氢酶缺乏症、线粒体脑肌病多见(各2例,8.3%)。结论 儿科医生应重视对遗传代谢病高危儿童进行末梢血氨基酸、酰基肉碱串联质谱分析以达到早诊断,早干预的目的。

关键词: 遗传代谢病, 串联质谱, 儿童
中图分类号:R722 文献标识码:A 文章编号:1008-6579(2015)08-0814-03 doi:10.11852/zgetbjzz2015-23-08-10