Mutations Matter in Fabry Disease

Fabry disease is a rare, inherited X-linked disorder caused by mutation of the GLA gene.1,2 Understanding patients’ specific mutations may provide insight into the unique nature of their disease and help to personalize care.3-6

Read More

Resource icon

See how Fabry affects multiple organs

View infographic
Resource icon

Learn how Fabry disease develops

Watch video
Resource icon

Help patients understand Fabry disease

See brochure

Fabry Support Groups

View our list of global Fabry support groups & online resources

CTA Learn more is committed to providing information and resources about Fabry disease, including the role of genetic mutations, to support healthcare professionals in diagnosing and caring for Fabry patients.

  1. Desnick RJ, Brady R, Barranger J, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003;138(4):338-346.
  2. Filoni C, Caciotti A, Carraresi L, et al. Functional studies of new GLA gene mutations leading to conformational Fabry disease. Biochim Biophys Acta. 2010;1802(2):247-252. doi:10.1016/j.bbadis.2009.11.003.
  3. Laney DA, Bennett RL, Clarke V, et al. Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors. J Genet Couns.  2013;22(5):555-564.
  4. Desnick RJ, Ioannou YA, Eng CM. α-galactosidase A deficiency: Fabry disease. In: Valle D, ed. The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw Hill; 2001:3733-3774.
  5. Anderson LJ, Wyatt KM, Henley W, et al. Long-term effectiveness of enzyme replacement therapy in Fabry disease: results from the NCS-LSD cohort study. J Inherit Metab Dis. 2014;37(6):969-978.
  6. Biegstraaten M, Arngrímsson R, Barbey F, et al. Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document. Orphanet J Rare Dis. 2015;10:36. doi:10.1186/s13023-015-0253-6.
  7. Eng CM, Germain DP, Banikazemi M, et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med. 2006;8(9):539-548.
Thank you for visiting You are now leaving the website. This link will take you to a site that is not owned or maintained by Amicus Therapeutics, and Amicus Therapeutics is not responsible for the information contained on third-party sites. OK 0