Changing clinical manifestations of Gaucher disease in Taiwan
Journal
Orphanet journal of rare diseases
Journal Volume
18
Journal Issue
1
Date Issued
2023-09-15
Author(s)
Lu, Wen-Li
Tsai, Fuu-Jen
Chou, Yen-Yin
Chu, Shao-Yin
Lee, An-Ju
Liao, Chao-Chuan
Wang, Chung-Hsing
Abstract
Gaucher disease (GD) is a lysosomal storage disorder characterized by deficient glucocerebrosidase activity that results from biallelic mutations in the GBA1 gene. Its phenotypic variability allows GD to be classified into 3 subtypes based on the presence and extent of neurological manifestations. Enzyme replacement therapy (ERT) has been available for all patients with GD in Taiwan since 1998. Newborn screening (NBS) for GD has been available since 2015. This study attempted to unveil the clinical features of patients diagnosed with GD during different eras in Taiwan.
Subjects
Enzyme replacement therapy; Gaucher disease; Newborn screening; Phenotype
SDGs
Type
journal article