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

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