:internalReference - eliglustat | 491833-29-5

Eliglustat

Eliglustat (Genz 99067) is an oral inhibitor of glucosylceramide synthase which is used in the therapy of type 1 Gaucher disease.

Eliglustat is an oral medication used as a substrate reduction therapy for Gaucher disease type 1, which is an inherited lysosomal storage disorder. This product is a small-molecule inhibitor derived via chemical synthesis. Its primary mode of action involves the selective inhibition of glucosylceramide synthase, an enzyme responsible for the first committed step in glycosphingolipid biosynthesis. By reducing the production of glucosylceramide, eliglustat decreases the substrate accumulation that contributes to the pathophysiology of Gaucher disease.