串联质谱技术在新生儿遗传代谢病筛查中的应用

Tandem mass spectrometry in newborn screening for inherited metabolic diseases

遗传代谢病是一组种类繁多,临床症状复杂的疾病,常累及神经系统等多器官,一旦发病危害严重。通过新生儿筛查技术早发现早治疗是预防遗传代谢病危害的有效途径。现对串联质谱技术在新生儿遗传代谢病筛查应用中的技术原理、实验流程、面临的挑战和问题作综述。

Inherited metabolic disease（IMD）is a wide variety of diseases,clinical symptom complex,nervous system and other organs often involves,once the onset of serious harm. Early detection through newborn screening and early treatment technology is an effective way to prevent genetic metabolic disease hazards. This paper provides an overview of the technical principles of tandem mass spectrometry in newborn screening for inherited metabolic disease applications,experimental processes,application status and the challenges and problems faced for review.