Fabry Disease

**Definition:** 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.

**Tree numbers:** - C10.228.140.163.100.435.825.200 - C10.228.140.300.275.374 - C14.907.253.329.374 - C16.320.322.124 - C16.320.565.189.435.825.200 - C16.320.565.398.641.803.300 - C16.320.565.595.554.825.200 - C18.452.132.100.435.825.200 - C18.452.584.563.641.803.300 - C18.452.648.189.435.825.200 - C18.452.648.398.641.803.300 - C18.452.648.595.554.825.200

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