|Title:||Algorithm for Pompe disease newborn screening: Results from the Taiwan screening program||Authors:||Chiang, Shu-Chuan
|Keywords:||Pompe disease;Newborn screening;Alpha-glucosidase;Lysosomal storage disease;Dried blood spot testing||Issue Date:||2012||Journal Volume:||106||Journal Issue:||3||Start page/Pages:||281-286||Source:||Mol. Genet. Metab.||Abstract:||
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.
|Appears in Collections:||醫學系|
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