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Fabry Disease

What is Fabry Disease?

Fabry disease is a rare, inherited condition caused by a mutation in the GLA gene. This gene is found on the X chromosome. The GLA gene controls the alpha-galactosidase A (alpha-Gal A) enzyme. This enzyme helps the body break down a certain type of fat called GL-3, GB-3, or globotriaosylceramide.(1)

Other condition names

  • Alpha-galactosidase A deficiency
  • Anderson-Fabry disease
  • Angiokeratoma corporis diffusum
  • Diffuse angiokeratoma
  • FD

Inheritance type

X-linked dominant, X-linked recessive

Age of Onset

  • Adolescent
  • Adult
  • Childhood

  1. What is Fabry Disease? National Fabry Disease Foundation. Available at https://www.fabrydisease.org/index.php/about-fabry-disease/what-is-fabry-disease. Accessed 6/15/2022.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.