Article
Fabry Disease: Molecular Basis, Pathophysiology, Diagnostics and Potential Therapeutic Directions.
Biomolecules - 12 Feb 2021
Kok Ken, Zwiers Kimberley C, Boot Rolf G, Overkleeft Hermen S, Aerts Johannes M F G, Artola Marta
Abstract excerpt
Fabry disease (FD) is a lysosomal storage disorder (LSD) characterized by the deficiency of α-galactosidase A (α-GalA) and the consequent accumulation of toxic metabolites such as globotriaosylceramide (Gb3) and globotriaosylsphingosine (lysoGb3). Early diagnosis and appropriate timely treatment of FD patients are crucial to prevent tissue damage and organ failure which no treatment can reverse. LSDs might profit...
Topics
- Animals
- Enzyme Inhibitors
- Enzyme Replacement Therapy
- Fabry Disease
- Female
- Humans
- Male
- Molecular Probes
- Mutation
- alpha-Galactosidase