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Miglustat: substrate reduction therapy for glycosphingolipid storage disorders

Robin H Lachmann

Miglustat (N-butyldeoxynojirimycin) is a potent inhibitor of ceramide-specific glucosyltransferase, the enzyme that catalyses the first committed step in glycosphingolipid biosynthesis. Inhibition of glycosphingolipid synthesis is a potential strategy for the treatment of a number of lysosomal storage disorders that result in the accumulation of glycosphingolipids within cells, an approach which has been termed substrate-reduction therapy. This article discusses the studies that led to the licensing of miglustat as a treatment for Type 1 Gaucher disease and its current and potential use in this, and other, glycosphingolipid storage disorders.