Fabry disease is an X-linked, genetic, rare and progressive disease caused by a deficiency of the enzyme α-galactosidase A.1-3 This leads to the build-up of a fatty material called globotriaosylceramide (GL-3 or Gb3) in various cells of the body.1-3
Untreated individuals may suffer from pain and gastrointestinal symptoms.2 The build-up of GL-3 (or Gb3) in Fabry disease may also cause potentially life-threatening complications such as:1,2,4
Enzyme replacement therapy with Replagal can replace the missing or deficient enzyme in Fabry disease.3
1. Pisani A, et al. Gen Med 2016; doi: 10.1038/gim.2016.117
2. El Dib R, et al. Cochrane Database of Systematic Reviews 2016, Issue 7. CD006663.
3. Replagal (agalsidase alfa), EMA Summary of Product Characteristics, August 2016. Available here.
4. Germain DP. Orphanet J Rare Dis 2010;5:30.
For more information on Fabry disease, visit Fabryawareness.com.