https://scholars.lib.ntu.edu.tw/handle/123456789/196223
標題: | Algorithm for Pompe disease newborn screening: Results from the Taiwan screening program | 作者: | Chiang, Shu-Chuan Hwu, Wuh-Liang |
關鍵字: | Pompe disease;Newborn screening;Alpha-glucosidase;Lysosomal storage disease;Dried blood spot testing | 公開日期: | 2012 | 卷: | 106 | 期: | 3 | 起(迄)頁: | 281-286 | 來源出版物: | Mol. Genet. Metab. | 摘要: | 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. |
URI: | http://ntur.lib.ntu.edu.tw//handle/246246/259678 |
顯示於: | 醫學系 |
檔案 | 描述 | 大小 | 格式 | |
---|---|---|---|---|
index.html | 23.18 kB | HTML | 檢視/開啟 |
在 IR 系統中的文件,除了特別指名其著作權條款之外,均受到著作權保護,並且保留所有的權利。