摘要
目的分析乌鲁木齐地区遗传代谢病的筛查状况。方法选取2018年1月至2019年2月该院就诊的疑似遗传代谢病高危儿童198例,采用串联质谱仪对氨基酸及肉碱进行定量分析,采用气相色谱检测尿有机酸含量。结果198例疑似高危患儿中检出阳性17例,检出率为8.6%,其中长链-3羟酰基辅酶A脱氢酶缺乏症3例,线粒体三功能蛋白缺乏症2例,苯丙酮尿症2例,高苯丙氨酸血症2例,多种羧化酶缺乏症1例,甲基丙二酸血症1例,原发性肉碱缺乏症1例,三羧酸尿症4例,酪氨酸尿症1例。结论串联质谱技术对乌鲁木齐地区遗传代谢病高危患儿具有较高的筛查价值,推广和普及遗传代谢病的筛查在该地区是十分有必要的。
Objective To analyse screening status of genetic metabolic diseases in Urumqi.Methods 198 high-risk children with suspected genetic metabolic diseases were selected from January 2018 to February 2019.Amino acids and carnitine were quantitatively analyzed by tandem mass spectrometry,and uric organic acids were detected by gas chromatography.Results Among 198 high-risk children,17 cases were positive,the detection rate was 8.6%.Among them,3 cases were long chain-3 hydroxyl coenzyme A dehydrogenase deficiency,2 cases were mitochondrial trifunctional protein deficiency,2 cases were phenylketonuria,2 cases were hyperphenylalanine,1 case was multiple carboxylase deficiency,1 case was methylmalonate acidemia,1 case was primary carnitine deficiency,4 cases were tricarboxylic Uria and 1 case was tyrosineuria.Conclusion Tandem mass spectrometry has high value in screening high-risk children with genetic metabolic diseases in Urumqi.It is necessary to popularize and popularize screening for genetic metabolic diseases in Urumqi.
作者
梅婷
刘洋
张文利
MEI Ting;LIU Yang;ZHANG Wenli(Department of clinical laboratory,Urumqi First People′s Hospital,Urumqi,Xinjiang 830000,China)
出处
《现代医药卫生》
2019年第23期3609-3611,共3页
Journal of Modern Medicine & Health
关键词
质谱分析法
代谢疾病/遗传学
乌鲁木齐地区
Mass spectrometric analysis
Metabolic diseases/genetics
Urumqi region
