Article
A review and recommendations for oral chaperone therapy in adult patients with Fabry disease.
Orphanet journal of rare diseases - 18 Jan 2024
Nowicki Michał, Bazan-Socha Stanisława, Błażejewska-Hyżorek Beata, Kłopotowski Mariusz M, Komar Monika, Kusztal Mariusz A, Liberek Tomasz, Małyszko Jolanta, Mizia-Stec Katarzyna, Oko-Sarnowska Zofia, Pawlaczyk Krzysztof, Podolec Piotr, Sławek Jarosław
Abstract excerpt
Fabry disease (FD) is a rare, X-linked lysosomal storage disorder affecting both males and females caused by genetic abnormalities in the gene encoding the enzyme α-galactosidase A. FD-affected patients represent a highly variable clinical course with first symptoms already appearing in young age. The disease causes a progressive multiple organ dysfunction affecting mostly the heart, kidneys and nervous system,...
Topics
- Adult
- Male
- Female
- Humans
- Fabry Disease
- alpha-Galactosidase
- 1-Deoxynojirimycin
- Mutation
- Kidney