Wang Ding, Wood Tim, Sadilek Martin, Scott C Ronald, Turecek Frantisek, Gelb Michael H
Department of Chemistry, University of Washington, Seattle, Washington, USA.
Clin Chem. 2007 Jan;53(1):137-40. doi: 10.1373/clinchem.2006.077263. Epub 2006 Nov 2.
A treatment for mucopolysaccharidosis II (Hunter syndrome) has recently become available. Therefore, we developed a high-throughput assay method appropriate for newborn screening for the relevant enzyme, iduronate 2-sulfatase.
We synthesized a new iduronate 2-sulfatase substrate that can be used to assay the enzyme by use of tandem mass spectrometry together with an internal standard. The assay uses a dried blood spot on a newborn screening card as the enzyme source.
When the assay was tested on dried blood spots, the iduronate 2-sulfatase activity measured for 13 patients with Hunter syndrome was well below the interval found for 57 randomly chosen newborns. The assay was more sensitive than previously reported iduronate 2-sulfatase assays.
This newly developed tandem mass spectrometry assay has the potential to be adopted for newborn screening of Hunter syndrome. This method also has the potential to be carried out in multiplex fashion to assay several different enzymes relevant to lysosomal storage diseases that are assayed in a single infusion into the mass spectrometer.
黏多糖贮积症II型（亨特综合征）的一种治疗方法最近已可用。因此，我们开发了一种适用于相关酶艾杜糖醛酸2-硫酸酯酶新生儿筛查的高通量检测方法。
我们合成了一种新的艾杜糖醛酸2-硫酸酯酶底物，可与内标一起用于通过串联质谱法检测该酶。该检测以新生儿筛查卡片上的干血斑作为酶源。
当在干血斑上测试该检测方法时，13例亨特综合征患者测得的艾杜糖醛酸2-硫酸酯酶活性远低于57例随机选择的新生儿的区间。该检测方法比先前报道的艾杜糖醛酸2-硫酸酯酶检测方法更灵敏。
这种新开发的串联质谱检测方法有可能用于亨特综合征的新生儿筛查。该方法也有可能以多重方式进行，以检测与溶酶体贮积病相关的几种不同酶，这些酶在单次注入质谱仪中进行检测。
