Application of liquid chromatography tandem mass spectrometry method from dry blood spots for the screening of inherited metabolic disease
10.3969/j.issn.1671-8348.2013.35.008
- VernacularTitle:液相串联质谱技术在高危婴幼儿遗传代谢病临床筛查诊断中的应用研究
- Author:
Li LIU
;
Hong LI
;
Biao LU
;
Xuehong ZHANG
;
Shaoming LI
;
Huiju XU
;
Zhaochun ZOU
- Publication Type:Journal Article
- Keywords:
tandem mass spectrometry;
metabolism,inborneirors;
blood chemical analysis;
diagnosis,differential
- From:
Chongqing Medicine
2013;(35):4252-4254
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the application value of liquid chromotography tandem mass spectrometry (LC-MS/MS) in screening of inherited metabolic disease risk children ,and to provide a reference for the scientific prevention and control .Methods 246 cases of patients with inherited metabolic children blood samples were collected through the blood spots ,LC-MS/MS was used to examine blood samples from high risk cases of inherited metabolic who came from general hospital of Ningxia medical university . Results 30 cases were confirmed with inherited metabolic disease by the LC-MS/MS ,the positive rate was 12 .2% ,including 9 ca-ses of methylmalonic academia ,4 cases of isovaleric acidemia ,6 cases of phenylketonuria ,2 cases of propionic acidemia ,2 cases of citrullinemia ,1 cases of very long-chain acyl-CoA dehydrogenase ,1 cases of mitochondrial trifunctional protein deficiency ,1 cases of maple syrup urine disease ,3 cases of homocystinuria ,2 cases of argininesuccinic aciduria .Conclusion Liquid chromatography tan-dem mass spectrometry(L-MS/MS) technology is highly efficient and high reliability method in screening inherited metabolic dis-ease .
