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. 2003 May 29;358(1433):947–954. doi: 10.1098/rstb.2003.1279

Substrate reduction therapy in mouse models of the glycosphingolipidoses.

Frances M Platt 1, Mylvaganam Jeyakumar 1, Ulrika Andersson 1, Tanya Heare 1, Raymond A Dwek 1, Terry D Butters 1
PMCID: PMC1693185  PMID: 12803928

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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Selected References

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