Hwu Wuh-Liang, Chien Yin-Hsiu, Lee Ni-Chung, Wang Shiao-Fang, Chiang Shu-Chuan, Hsu Li-Wen
Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan,
Top Curr Chem. 2014;336:177-96. doi: 10.1007/128_2012_354.
Many genetic diseases, especially the inborn errors of metabolism, have very low incidences, so developing a newborn screening test for each disease is not practical. This obstacle was overcome by employing the tandem mass spectrometry (MS/MS) technology. In the analysis, the samples can be injected directly into the flowing system without passing through a column, and both acylcarnitine and amino acid profiles can be obtained at the same time. MS/MS newborn screening has been shown to improve the outcome of patients affected by a number of inborn errors of metabolism. Recently, MS/MS analytical methods were developed for second-tier tests of newborn screening; new substrates have also been developed to measure the activity of lysosomal enzymes so lysosomal storage diseases can be diagnosed by MS/MS method now.
许多遗传疾病，尤其是先天性代谢缺陷病，发病率极低，因此针对每种疾病开发新生儿筛查检测方法并不实际。采用串联质谱（MS/MS）技术克服了这一障碍。在分析过程中，样品无需经过色谱柱即可直接注入流动系统，同时可获得酰基肉碱和氨基酸谱。MS/MS新生儿筛查已被证明可改善许多先天性代谢缺陷病患者的治疗结果。最近，开发了用于新生儿筛查二线检测的MS/MS分析方法；还开发了新的底物来测量溶酶体酶的活性，因此现在可以通过MS/MS方法诊断溶酶体贮积病。
