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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.

Original publication

DOI

10.1098/rstb.2003.1279

Type

Journal article

Journal

Philos Trans R Soc Lond B Biol Sci

Publication Date

29/05/2003

Volume

358

Pages

947 - 954

Keywords

1-Deoxynojirimycin, Animals, Disease Models, Animal, Enzyme Inhibitors, Mice, Sphingolipidoses, Substrate Specificity