About
Fabry disease
Fabry disease is a rare, X-linked lysosomal storage disorder (LSD) caused by mutations in the GLA gene coding for the enzyme α-galactosidase A (α-Gal A). α-Gal A catalyses the removal of terminal α-galactose groups from substrates including glycoproteins and glycolipids and therefore, deficient or absent α-Gal A activity affects lipid metabolism.1 In untreated individuals, this leads to progressive multisystemic disease, primarily affecting the heart, kidneys and peripheral and central nervous systems.2 Learn more by exploring the sections below.
This non-promotional website is intended for UK Healthcare Professionals only.
The following resource represents an overview of Fabry Disease. It aims to aid wider health care professionals, who are not Metabolic Disease Specialists, improve their knowledge of the pathology of the disease and associated management challenges.
- Fabry disease pathophysiology and natural history Learn more
- Prevalence of Fabry disease Learn more
- GLA gene mutations and inheritance Learn more
- Clinical manifestations of Fabry disease Learn more
- Diagnosis of Fabry disease Learn more
- Management of Fabry disease Learn more
NP-NN-UKI-00051024
October 2024
- National Organization for Rare Disorders (NORD). Fabry Disease. 2019. Available at https://rarediseases.org/rare-diseases/fabry-disease/. Accessed July 2022.
- Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30.
