Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders
Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders
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DOI：
10.1007/s10545-017-0126-3
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发表时间：
2018-05-01
影响因子：
4.2
通讯作者：
Froissart, Roseline
中科院分区：
文献类型：
--
作者：
Piraud, Monique;Pettazzoni, Magali;Froissart, Roseline
串联质谱（MS/MS）是一种高度灵敏和特异的技术。由于三重四极杆分析仪的发展，它正变得越来越广泛地用于在先天性代谢缺陷领域工作的实验室。我们在这里审查的最新技术应用于溶酶体贮积症（LSDs）的诊断和MS/MS如何改变了近年来的诊断原理。这项精细的技术为尿中糖胺聚糖、寡糖和唾液酸的分析带来了比以前的生化方法更灵敏、更特异、更可靠的方法。在鞘脂病中，可以定量尿鞘脂（globotriaosylecramide，硫苷脂）。新的血浆生物标志物，如氧固醇，胆汁酸和lysosphingolipids的测量允许许多鞘脂病和相关疾病（尼曼匹克C型）的筛选，取代繁琐的生化技术。应用于羊水，更可靠的产前诊断或筛查LSD现在可用于胎儿呈现产前表现。应用于酶的测量，它允许高通量检测，用于大规模人群的筛查，甚至新生儿筛查。这种新方法的出现可以修改LSD背后的诊断原理。
Tandem mass spectrometry (MS/MS) is a highly sensitive and specific technique. Thanks to the development of triple quadrupole analyzers, it is becoming more widely used in laboratories working in the field of inborn errors of metabolism. We review here the state of the art of this technique applied to the diagnosis of lysosomal storage disorders (LSDs) and how MS/MS has changed the diagnostic rationale in recent years. This fine technology brings more sensitive, specific, and reliable methods than the previous biochemical ones for the analysis of urinary glycosaminoglycans, oligosarcharides, and sialic acid. In sphingolipidoses, the quantification of urinary sphingolipids (globotriaosylecramide, sulfatides) is possible. The measurement of new plasmatic biomarkers such as oxysterols, bile acids, and lysosphingolipids allows the screening of many sphingolipidoses and related disorders (Niemann-Pick type C), replacing tedious biochemical techniques. Applied to amniotic fluid, a more reliable prenatal diagnosis or screening of LSDs is now available for fetuses presenting with antenatal manifestations. Applied to enzyme measurements, it allows high throughput assays for the screening of large populations, even newborn screening. The advent of this new method can modify the diagnostic rationale behind LSDs.