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Angiokeratoma, Diffuse

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.