Substrate Reduction Therapy in Mouse Models of the Glycosphingolipidoses

Overview

Journal Philos Trans R Soc Lond B Biol Sci

Specialty Biology

Date 2003 Jun 14

PMID 12803928

Citations 23

Authors

Frances M Platt

Mylvaganam Jeyakumar

Ulrika Andersson

Tanya Heare

Raymond A Dwek

Terry D Butters

Affiliations

Soon will be listed here.

Abstract

Substrate reduction therapy uses small molecules to slow the rate of glycolipid biosynthesis. One of these drugs, N-butyldeoxynojirimycin (NB-DNJ), shows efficacy in mouse models of Tay-Sachs, Sandhoff and Fabry diseases. This offers the prospect that NB-DNJ may be of therapeutic benefit, at least in the juvenile and adult onset variants of these disorders. The infantile onset variants will require an additional enzyme-augmenting modality if the pathology is to be significantly improved. A second drug, N-butyldeoxyglactonojirimycin, looks very promising for treating storage diseases with neurological involvement as high systemic dosing is achievable without any side-effects.

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