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.
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.
Inga svenska synonymer finns.
Fabry's Disease — Anderson-Fabry Disease — Anderson Fabry Disease — alpha-Galactosidase A Deficiency Disease — alpha Galactosidase A Deficiency Disease — GLA Deficiency — Deficiency, GLA — Angiokeratoma, Diffuse — Diffuse Angiokeratoma — Ceramide Trihexosidase Deficiency — Deficiency, Ceramide Trihexosidase — Hereditary Dystopic Lipidosis — Lipidosis, Hereditary Dystopic — Angiokeratoma Diffuse — Angiokeratoma Corporis Diffusum — alpha-Galactosidase A Deficiency — Deficiency, alpha-Galactosidase A — alpha Galactosidase A Deficiency