An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.
Also Known As:
Fabry's Disease; Anderson Fabry Disease; Angiokeratoma Corporis Diffusum; Angiokeratoma Diffuse; Angiokeratoma, Diffuse; Ceramide Trihexosidase Deficiency; GLA Deficiency; Hereditary Dystopic Lipidosis; alpha-Galactosidase A Deficiency; alpha-Galactosidase A Deficiency Disease; Deficiency, Ceramide Trihexosidase; Deficiency, GLA; Deficiency, alpha-Galactosidase A; Diffuse Angiokeratoma; Lipidosis, Hereditary Dystopic; alpha Galactosidase A Deficiency; alpha Galactosidase A Deficiency Disease; Anderson-Fabry Disease