Fabry Disease
Synonyms
Anderson Fabry Disease
Anderson-Fabry Disease
Angiokeratoma Corporis Diffusum
Angiokeratoma Diffuse
Angiokeratoma, Diffuse
Ceramide Trihexosidase Deficiency
Deficiency, Ceramide Trihexosidase
Deficiency, GLA
Deficiency, alpha-Galactosidase A
Diffuse Angiokeratoma
Fabry's Disease
GLA Deficiency
Hereditary Dystopic Lipidosis
Lipidosis, Hereditary Dystopic
alpha Galactosidase A Deficiency
alpha Galactosidase A Deficiency Disease
alpha-Galactosidase A Deficiency
alpha-Galactosidase A Deficiency Disease
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.
See Also