Gaucher' s sygdom er karakteriseret af funktionel mangel på β- glucocerebrosidasenzymaktivitet med deraf følgende akkumulering af lipidt glucocerebrosid i vævsmakrofager, der udfyldes og benævnes Gaucher- celler.
Gaucher disease is characterised by a functional deficiency in β -glucocerebrosidase enzymatic activity and the resultant accumulation of lipid glucocerebroside in tissue macrophages, which become engorged and are termed Gaucher cells.