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