The applications of mass spectrometry in inherited metabolic diseases and prenatal diagnosis
10.3760/cma.j.issn.1009-9158.2017.10.007
- VernacularTitle:质谱技术在遗传代谢病及产前诊断中的应用
- Author:
Lianshu HAN
1
Author Information
1. 200092,上海交通大学医学院附属新华医院 上海市儿科医学研究所 小儿内分泌/遗传科
- Keywords:
Metabolism;
inborn errors;
Prenatal diagnosis;
Tandem mass spectrometry;
Gas chromatography-massspectrometry;
Neonatal screening
- From:
Chinese Journal of Laboratory Medicine
2017;40(10):761-765
- CountryChina
- Language:Chinese
-
Abstract:
The application of mass spectrometry(MS)in the detection of inherited metabolic diseases including the following two aspects.The tandem mass spectrometry(MS/MS)technology is applied to detect small molecules(such as amino acid, acyl carnitine, fragments of steroid hormones and lysosomalmetabolites)of dried blood specimens,thus to screen and diagnose relevant diseases.Meanwhile, the gas chromatographic mass spectrometry(GC/MS)is used to test urine organic acid, thus to diagnose organic acidemia, and assist in the diagnosis of amino acid metabolic diseases and fatty acid oxidative diseases.MS has currently been widely used as the main method for screening newborn with these amino acids,organic acids and fatty acids oxidative metabolic diseases.For the newborn screening of adrenal and lysosomal disorders,MS has been used only in several countries.Furthermore, MS could also be used to perform prenatal diagnosis of organic acidemia through detecting acyl carnitine and organic acid in amniotic fluid.
