Application of tandem mass spectrometry in newborn genetic metabolic disease screening
10.3760/cma.j.issn.1009-8158.2019.06.003
- VernacularTitle:串联质谱在新生儿遗传代谢疾病筛查中的应用
- Author:
Qi LIU
1
;
Hongmei WU
;
Yifei LIU
;
Caixia LI
;
Lin LI
Author Information
1. 北京市药品检验所
- Keywords:
Inherited metabolic disorders;
Tandem mass spectrometry;
Neonatal disease screening
- From:
Chinese Journal of Laboratory Medicine
2019;42(6):403-406
- CountryChina
- Language:Chinese
-
Abstract:
Inherited metabolic disorders, also known as congenital metabolic diseases, refer to a group of diseases that cause a series of clinical symptoms due to gene mutations, such as enzyme deficiency, dysfunction of cell membrane or receptor deficiency, resulting in biochemical metabolic disorders, accumulation of intermediate or bypass metabolites, or lack of final metabolites. Inherited metabolic disordersoften occur in childhood, progressively aggravating, irreversible nervous system damage, and even death. Tandem mass spectrometry (MS/MS) has been widely used in newborn screening abroad and in China. This technology not only expands the screening spectrum of newborn screening, but also improves the screening efficiency, specificity and sensitivity, which opens up a new field for disease screening. With deepening the understanding of the mechanism of inherited metabolic disorders and mass spectrometry technology, its clinical application becomes more significant in diseases screening and diagnosing.
