Fabrys sygdom er en forstyrrelse i glycosphingolipid- deponering, som er forårsaget af en mangelfuld aktivitet af det lysosomale enzym α- galactosidase A, resulterende i akkumulation af globotriaosylceramid (også betegnet Gb3 eller CTH), glycosphingolipid- substratet for dette enzym.
Fabry Disease is a glycosphingolipid storage disorder that is caused by deficient activity of the lysosomal enzyme α -galactosidase A, resulting in accumulation of globotriaosylceramide (also referred to as Gb3 or CTH), the glycosphingolipid substrate for this enzyme.