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.

Descriptor ID	D000795
MeSH Number(s)	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 C18.452.584.687.803.300 C18.452.648.189.435.825.200 C18.452.648.398.641.803.300 C18.452.648.595.554.825.200
Concept/Terms	Fabry Disease Fabry Disease alpha-Galactosidase A Deficiency Disease alpha Galactosidase A Deficiency Disease Anderson-Fabry Disease Anderson Fabry Disease Angiokeratoma Corporis Diffusum Angiokeratoma Diffuse Ceramide Trihexosidase Deficiency Deficiency, Ceramide Trihexosidase Fabry's Disease GLA Deficiency Deficiency, GLA Hereditary Dystopic Lipidosis Lipidosis, Hereditary Dystopic alpha-Galactosidase A Deficiency Deficiency, alpha-Galactosidase A alpha Galactosidase A Deficiency Angiokeratoma, Diffuse Diffuse Angiokeratoma

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