| Literature DB >> 29100779 |
Pavlina Wolf1, Roy N Alcalay2, Christopher Liong2, Emmaline Cullen3, Michael W Pauciulo4, William C Nichols4, Ziv Gan-Or5, Wendy K Chung6, Tina Faulkner1, Christopher Bentis1, Robert J Pomponio1, Xiwen Ma1, X Kate Zhang1, Joan M Keutzer1, Petra Oliva7.
Abstract
Deficiency of β-Glucocerebrosidase (GBA) activity causes Gaucher Disease (GD). GD can be diagnosed by measuring GBA activity (Beutler and Kuhl, 1990). In this study, we assayed dried blood spots from a cohort (n=528) enriched for GBA mutation carriers (n=78) and GD patients (n=18) using both the tandem mass spectrometry (MS/MS) and fluorescence assays and their respective synthetic substrates. The MS/MS assay differentiated normal controls, which included GBA mutation carriers, from GD patients with no overlap. The fluorescence assay did not always differentiate normal controls including GBA mutation carriers from GD patients and false positives were observed. The MS/MS assay improved specificity compared to the fluorescence assay.Entities:
Keywords: Dried blood spots (DBS); Gaucher disease (GD); Glucocerebroside; Lysosomal storage disorder (LSD); Newborn screening (NBS); β-Glucocerebrosidase (GBA)
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Year: 2017 PMID： 29100779 PMCID： PMC5808899 DOI： 10.1016/j.ymgme.2017.10.011
Source DB: PubMed Journal: Mol Genet Metab ISSN： 1096-7192 Impact factor: 4.797