Status and frontiers of Fabre disease
- Published on 05/09/2025
- Reading time: 5 min.
Chu Wei 1,2, Chen Min 2,3, Lv Xiaoqin 4, Lu Sheng 1, Wang Changyan 5, Yin Limin 6, Qian Linyan 2,7, Shi Jiana 2
1 https://ror.org/04mvpxy20 Department of Pharmacy The First People’s Hospital of Huzhou, The Directly Affiliated Hospital of Huzhou Teachers College Huzhou China
2 https://ror.org/03k14e164 Center for Clinical Pharmacy, Cancer Center, Department of Pharmacy Zhejiang Provincial People’s Hospital (Affiliated People’s Hospital, Hangzhou Medical College) Hangzhou China
3 https://ror.org/00wwb2b69 Department of Pharmacy The First People’s Hospital of Aksu District Aksu China
4 Department of Drug Monitoring and Evaluation, Zhejiang Center for Drug and Cosmetic Evaluation Hangzhou China
5 Department of Clinical Laboratory Huzhou Aishan Hospital of Integrated Chinese and Western Medicine Huzhou China
6 https://ror.org/04e3jvd14 Department of Pharmacy First People’s Hospital of Wenling Wenling China
7 Heart Center, Department of Cardiovascular Medicine, Affiliated People’s Hospital Zhejiang Provincial People’s Hospital, Hangzhou Medical College Hangzhou China
Abstract
Fabry disease is characterized by an X sex chromosome gene mutation caused by α-galactosidase A deficiency, resulting in the accumulation of globotriaosylceramide and globotriaosylsphingosine in various organs, which induces end-organ lesions. In Fabry disease, enzymes with lost or decreased activity in the body are replaced by exogenous supplementation of normal-function α-galactosidase A. Currently, agalsidase α and agalsidase β are widely used for ERT...
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