Screening of lysosomal storage disorders: application of the online trapping-and-cleanup liquid chromatography/mass spectrometry method for mucopolysaccharidosis I
Screening of lysosomal storage disorders: application of the online trapping-and-cleanup liquid chromatography/mass spectrometry method for mucopolysaccharidosis I
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DOI：
10.1255/ejms.1257
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发表时间：
2013-01-01
影响因子：
1.3
通讯作者：
la Marca, Giancarlo
中科院分区：
文献类型：
--
作者：
Ombrone, Daniela;Malvagia, Sabrina;la Marca, Giancarlo
近年来，新的治疗方法已可用于治疗一些溶酶体贮积症（LSD），许多研究表明，早期开始治疗是有益的。新生儿筛查应及早发现疾病，以便及时治疗。一些国家在其新生儿筛查小组中包括额外的条件，如一些LSD。I型粘多糖样变性（MPS I）是一种由α-L-艾杜糖醛酸酶（IDUA）活性缺乏引起的常染色体隐性遗传疾病。目前，酶替代疗法（ERT）或骨髓移植是可用的，这已经引起了越来越多的兴趣，为新生儿筛查测试的发展。2009年，我们报道了一种新的快速和简化的串联质谱法，用于定量干血斑上的五种酶活性。在这里，我们描述了包括IDUA活性测定的同时检测6个溶酶体贮积病。我们通过测试680名健康新生儿和240名成人确定了参考正常范围。通过IDUA活性低于正常范围的3例确诊MPS I患者检查了该测定。通过评估日内和日间试验不精密度，确定了试验的重现性。这种快速测定已被设计用于通过液相色谱串联质谱法进行新生儿筛查。
In recent years, new treatments have become available to treat some lysosomal storage disorders (LSDs) and many studies suggest that there is a benefit with starting therapy early. Newborn screening should detect diseases early enough for prompt treatment. Some countries include additional conditions, such as some LSDs, into their newborn screening panels. Mucopolysaccharidosis Type I (MPS I) is an autosomal recessive disorder caused by the deficiency of alpha-L-iduronidase (IDUA) activity. Currently, enzyme replacement therapy (ERT) or bone marrow transplantation is available and this has raised a growing interest for the development of a newborn screening test. In 2009, we reported a new fast and simplified tandem mass spectrometry-based method for quantifying five enzyme activities on dried blood spots. Here, we describe the inclusion of IDUA activity determination for the simultaneous detection of six lysosomal storage diseases. We have defined reference normal ranges by testing 680 healthy newborns and 240 adults. The assay was checked through three confirmed MPS I patients whose IDUA activity was below the normal range. Reproducibility of the assays has been established by assessing the intra-day and inter-day assay imprecisions. This quick assay has been devised to be implemented in newborn screening by liquid chromatography tandem mass spectrometry.