eliglustat

Eliglustat is a small molecule oral medication used for the long-term treatment of type 1 Gaucher disease in adults who are CYP2D6 extensive, intermediate, or poor metabolizers. It acts as a glucosylceramide synthase inhibitor, reducing the synthesis of glucosylceramide—a fatty substance that accumulates in organs and tissues due to deficient acid β-glucosidase activity in Gaucher disease. By inhibiting this enzyme, eliglustat decreases substrate accumulation and helps improve symptoms such as hepatosplenomegaly (enlarged liver/spleen), anemia, thrombocytopenia (low platelets), and bone complications. Eliglustat was discovered at the University of Michigan and developed by Genzyme Corp; it was approved by the FDA in August 2014 as an alternative to enzyme replacement therapy for eligible patients[5][6][1].

Brand names

Cerdelga

Other names

ELIGLUSTATUNII-DR40J4WA67UNII-DR-40J4WA67UNII-DR 40J4WA67CHEBI:82752N-((1R,2R)-2-(2,3-Dihydro-1,4-benzodioxin-6-yl)-2-hydroxy-1-(pyrrolidin-1-ylmethyl)ethyl)octanamide