World Stroke Organization Genetic Mutations in Stroke
Lessons
Course Content
Fabry Disease
- First described in 1898 by Johannes Fabry, German dermatologist
- Lysosomal storage disorder
- Second most common lysosomal storage disorder
- α-galactosidase A deficient activity
- Accumulation of glycosphingolipids (vascular endothelium, smooth-muscles, ganglia)
- >300 mutations
- X-linked (men harboring the major disease manifestations)
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