Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper
Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper
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DOI：
10.1016/j.cccn.2004.04.009
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发表时间：
2004-09-01
影响因子：
5
通讯作者：
Casentini, C
中科院分区：
文献类型：
--
作者：
Chamoles, NA;Niizawa, G;Casentini, C
背景：糖原储存病II的特征是溶酶体酶酸-葡萄糖苷酶缺乏。目前. .糖原储存病II通过肌肉活检、培养成纤维细胞或纯化淋巴细胞中酸性α -葡萄糖苷酶活性的缺失或显著降低来诊断。糖原储存病II的早期诊断和治疗被认为对正在开发的酶替代疗法的最大疗效至关重要。然而，这些现有的诊断方法并不适合新生儿筛查。我们开发了一种用于新生儿糖原储存病II筛查的检测方法。方法：采用三种酶法测定滤纸上干血斑的α -葡萄糖苷酶活性。用麦芽糖作为抑制剂，在其他α -葡萄糖苷酶干扰最小的情况下，测定了酸性a-葡萄糖苷酶的活性。该方法用于糖原储存病II型患者、专性杂合子和健康对照的样本。结果：通过一系列的酶分析，将糖原储存病II型患者与携带者和健康对照组区分开来。结论：我们开发了一种简单、无创的糖原储存病II型筛查方法。该方法可纳入新生儿筛查。(C) 2004 Elsevier B.V.版权所有
Background: Glycogen storage disease II is characterized by a deficiency of the lysosomal enzyme acid a-glucosidase. Currently.. glycogen storage disease II is diagnosed by demonstrating the virtual absence or a marked reduction of acid alpha-glucosidase activity in muscle biopsies, cultured fibroblasts, or purified lymphocytes. Early diagnosis and treatment of glycogen storage disease II are considered to be critical for maximum efficacy of the enzyme replacement therapies that are in development. However, these existing diagnostic methods are not suited for newborn screening. We developed an assay useful for newborn screening for glycogen storage disease II. Methods: A series of three enzyme assays to measure the alpha-glucosidase activities in dried blood spots on filter paper was developed. The measurement of acid a-glucosidase activity with minimal interference by other alpha-glucosidases was accomplished using maltose as an inhibitor. The method was used on samples from glycogen storage disease II patients, obligate heterozygotes, and healthy controls. Results: Glycogen storage disease II patients were distinguished from carriers and healthy controls using the series of enzyme assays. Conclusions: We developed a simple and noninvasive screening method for glycogen storage disease II. The method could be incorporated into newborn screening. (C) 2004 Elsevier B.V. All rights reserved.