摘要
目的应用串联质谱（tandem mass spectrometry, MS/MS）技术对新生儿进行遗传代谢病（IEM）筛查，初步了解广西地区各种氨基酸、有机酸、脂肪酸代谢病发病率。方法选取2011年5月-2015年5月应用液相色谱一串联质谱（LC—MS／MS）技术对该实验室接收的254135例新生儿样本进行IEM筛查，筛查阳性者重新采血复查，必要时行尿液气相色谱-质谱（GC—MS）分析、酶活性测定及其他相关生化项目及基因检测对其进行确诊。结果254135例新生儿中确诊IEM患儿25例，检出率为1：10165，其中氨基酸代谢病10例，有机酸代谢病5例，脂肪酸代谢病10例。结论MS／MS技术筛查新生儿IEM检测快速、准确、高通量，可在早期发现IEM患儿，早期进行干预治疗可降低新生儿期死亡率，减轻或避免不可逆的脏器损伤。
Objective To screen neonatal inherited metabolic diseases by tandem mass spectrometry （MS/MS）, preliminarily understandl the prevalence of various amino acid, organic acid, fatty acid metabolic diseases in Guangxi. Methods Inherited metabolic diseases screening was conducted among 254 135 neonates by liquid chromatogram-MS/MS from May 2011 to May 2015, the positive cases were recalled for reexamination, if necessary, urine GC-MS, enzyme activity assay, other biochemical test, and gene test were performed for definite diagnosis. Results Among 254 135 neonates, 25 neonates were diagnosed as inherited metabolic diseases definitely, the detection rate was 1 ： 10 165, including ten neonates with amino acid metabolic diseases, five neonates with organic acid metabolic diseases, and ten neonates with fatty acid metabolic diseases. Conclusion MS/MS has the advantages of quickness, accuracy, and high-throughput in inherited metabolic diseases screening, the neonates with inherited metabolic diseases can be detected at early stage, early intervention and treatment can reduce neonatal mortality and relieve or avoid irreversible organ damage.
出处
《中国妇幼保健》
CAS
2015年第31期5479-5482,共4页
Maternal and Child Health Care of China
基金
遗传代谢病筛查与诊治技术规范化研究"十二五"国家科技支撑项目〔2012BAI09B04〕
关键词
串联质谱
遗传代谢病
气相质谱
新生儿筛查
Tandem mass
Inherited metabolic disease
GC/MS
Neonatal screening
