新生儿筛查
医学
生物
干血斑
串联质谱法
内科学
作者
Qi Liu,Hongmei Wu,Yifei Liu,Caixia Li,Li Lin
出处
期刊:Chinese Journal of Laboratory Medicine
日期:2019-06-11
卷期号:42 (6): 403-406
标识
DOI:10.3760/cma.j.issn.1009-8158.2019.06.003
摘要
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.
Key words:
Inherited metabolic disorders; Tandem mass spectrometry; Neonatal disease screening
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