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目的:探讨串联质谱联合二代测序技术在遗传代谢病(inborn errors of metabolism，IEM)诊断中的应用价值。方法:采用串联质谱技术对2018年1月至2019年12月西北妇女儿童医院新生儿筛查中心的60 272例新生儿进行遗传代谢病筛查，对其中34例阳性患者采用高通量测序技术进行遗传学分析。结果:39例患者被确诊为遗传代谢病，包括氨基酸代谢病18例(46.15%)，有机酸代谢病15例(38.46%)和脂肪酸氧化障碍类疾病6例(15.38%)，本地区IEMs发生率为1∶1545。高苯丙氨酸血症和甲基丙二酸血症是两种最常见的遗传代谢病，占所有确诊病例的66.67%(26/39)。高苯丙氨酸血症的n PAH基因c.728G>A和c.721C>T、甲基丙二酸血症的n MMACHC基因c.567dupT和c.609G>A、n MMUT基因c.323G>A和c．1630_1631delGGinsTA以及希特林蛋白缺乏症的n SLC25A13基因c.852_855del是常见的突变位点。n 结论:串联质谱新生儿筛查与二代测序技术的联合应用能够有效地提高遗传代谢病的诊断效率。遗传代谢病在陕西地区并不罕见，初步呈现了本地区遗传代谢病的发病率、疾病谱及遗传特征，为串联质谱技术在陕西地区新生儿筛查中的推广应用及基因检测的临床实践奠定基础。“,”Objective:To explore the diagnostic value of tandem mass spectrometry (MSMS) combined with next-generation sequencing (NGS) technology for inborn errors of metabolism(IEM).Methods:A total of 60 272 newborns were screening by MSMS from January 2018 to December 2019 and 34 patients were referred to genetic analysis by next generation sequencing (NGS) and validated by Sanger sequencing.Results:Thirty-nine infants were diagnosed with IEMs, and an overall incidence rate was 1∶1545.There were 18 cases with amino acid disorders (46.15%), 15 with organic acid disorders (38.46%), and 6 with fatty acid oxidation disorders (15.38%). Hyperphenylalaninemia and methylmalonic acidemia were the two most common disorders, accounting for 66.67% (26/39) of all confirmed cases.Some hotspot mutations were observed for several IEMs, including n PAH gene c. 728G>A and c. 721C>T for hyperphenylalaninemia;n MMACHC gene c. 567dupT and c. 609G>A,n MMUT gene c. 323G>A and c. 1630_1631delGGinsTA for methylmalonic acidemia andn SLC25A13 gene c. 852_855del for citrin deficiency.n Conclusion:This study indicates that the combined application of MSMS and NGS can effectively improve the diagnosis efficiency of IEMs.IEMs are never uncommon in Shanxi province and the disease spectrum and genetic characteristics of IEMs have been preliminarily elucidated in this region.This will provide effective clinical guidance for the popularization and application of expanded newborn screening, genetic screening, and genetic counseling of IEMs in this region.