Fabry disease

Alpha-galactosidase A deficiency; Anderson-Fabry Disease; Angiokeratoma Corporis Diffusum; Angiokeratoma diffuse; Ceramide trihexosidase deficiency; Fabry's Disease; Fabry//'s Disease; GLA deficiency; Hereditary dystopic lipidosis

Fabry's disease (also known as Anderson-Fabry disease, Angiokeratoma corporis diffusum, and Ceramide trihexosidosis) is a rare, X-linked inherited lysosomal storage disease. A deficient enzyme (alpha galactosidase A) causes a glycolipid (ceramide trihexoside) to accumulate in blood vessels and other tissues and organs, impairing their function. Symptoms Some of the pathological symptoms includes skin lesions, episodes of fever, and burning in extremities. Skin lesions are painless elevate ...