Value of tandem mass spectrometry analysis in diagnosis of high risk children with inherited metabolic diseases.
WANG Xue-ying,JANG Yong-sheng,LI Dan,YANG Lin,HUANG Shao-ping,SONG Ting-ting,LIU Yu.
(Department of Pediatrics,the Second Hospital Affiliated to Medical School of Xi'an Jiaotong University,Xi'an,Shaanxi 710004,China) Corresponding author:YANG Lin,E-mail:yr_1217@163.com
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.
王雪莹,姜永生,李丹,杨琳,黄绍平,宋婷婷,刘宇. 串联质谱分析在遗传代谢病高危儿童中的意义[J]. 中国儿童保健杂志, 2015, 23(8): 814-816.
WANG Xue-ying,JANG Yong-sheng,LI Dan,YANG Lin,HUANG Shao-ping,SONG Ting-ting,LIU Yu.. Value of tandem mass spectrometry analysis in diagnosis of high risk children with inherited metabolic diseases.. journal1, 2015, 23(8): 814-816.
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