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

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Fabry Disease can affect every patient differently7

Gene sequencing can inform diagnosis3-5

Treatment options are evolving
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See how Fabry affects multiple organs

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Learn how Fabry disease develops

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Help patients understand Fabry disease

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Clinical Trials

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FabryFacts.com 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.
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