Fabry Disease

Fabrys sjukdom

Svensk definition

Störning i den lysosomala lagringen pga brist på alfagalaktosidas A, vilket leder till ansamling av globotriaosylceramid (Gb3) i njur- och hjärtkärlsystemen. Sjukdomen är X-bunden och kännetecknas av telangiektatiska hudsår, njursvikt, störningar i hjärtkärlsystemet, magtarmkanalen och centrala nervsystemet, och smärta.

Engelsk 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.

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

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