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Substrate reduction therapy in mouse models of the glycosphingolipidoses.
Journal article published in 2003 by
Frances M. Platt 
,
Mylvaganam Jeyakumar,
Ulrika Andersson,
Tanya Heare,
Raymond A. Dwek,
Terry D. Butters
,
Mylvaganam Jeyakumar,
Ulrika Andersson,
Tanya Heare,
Raymond A. Dwek,
Terry D. Butters
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.