Algorithm for Pompe disease newborn screening: Results from the Taiwan screening program
Algorithm for Pompe disease newborn screening: Results from the Taiwan screening program
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DOI：
10.1016/j.ymgme.2012.04.013
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发表时间：
2012-07-01
影响因子：
3.8
通讯作者：
Chien, Yin-Hsiu
中科院分区：
文献类型：
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作者：
Chiang, Shu-Chuan;Hwu, Wuh-Liang;Chien, Yin-Hsiu
背景资料：庞贝氏症是由酸性α-葡萄糖苷酶（GAA）缺乏引起的，会导致进行性、衰弱且通常危及生命的症状。新生儿筛查已导致庞贝氏症的早期诊断，但最好的算法筛选尚未established.Materials和方法：GAA和中性α-葡萄糖苷酶（NAG）活性在干血斑（DBS）测定使用4-甲基伞形酮-β-D-葡萄糖苷作为底物。我们还测量了DBS中的α-半乳糖苷酶A（GLA）活性以进行比较。结果：荧光法筛查Pompe病重复性好，但NAG/GAA比值在区分真阳性和假阳性方面具有上级优势。NAG/GAA截断值>= 60产生的阳性预测值（PPV）为63.4%，在我们的样本中，只有两例迟发性庞贝氏症会被遗漏。结论：选择合适的对照酶可提高新生儿筛查的准确性。新生儿筛查庞贝氏症可以使用NAG/GAA比率作为截止值，即使在GAA部分缺乏的情况下。(C)2012 Elsevier Inc. All rights reserved.
Background: Pompe disease is caused by a deficiency in acid alpha-glucosidase (GAA) and results in progressive, debilitating, and often life-threatening symptoms. Newborn screening has led to the early diagnosis of Pompe disease, but the best algorithm for screening has not yet been established.Materials and methods: GAA and neutral alpha-glucosidase (NAG) activities in dried blood spots (DBSs) were assayed using 4-methylumbelliferyl-beta-D-glucopyranoside as the substrate. We also measure alpha-galactosidase A (GLA) activity in DBSs for comparison. A total of 473,738 newborns were screened for Pompe disease, and the data were analyzed retrospectively to determine the best screening algorithm.Results: The fluorescence assay used in the screening possessed good reproducibility, but the NAG/GAA ratio was superior in separating the true-positive from the false-positive cases. An NAG/GAA cutoff ratio >= 60 produces a positive predictive value (PPV) of 63.4%, and in our sample, only two cases of later-onset Pompe disease would have been missed. The GLA/GAA ratio is not as effective as the NAG/GAA ratio.Conclusion: A suitable control enzyme can improve the performance of newborn screening. Newborn screening for Pompe disease can be performed using the NAG/GAA ratio as a cutoff even in the presence of GAA partial deficiency. (C) 2012 Elsevier Inc. All rights reserved.