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.
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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.
- 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.