Glycosphingolipid (GSL) storage disorders are genetic conditions characterized by an imbalance between the rate of synthesis and the rate of degradation or recycling through trafficking of specific GSL substrates leading to their cytotoxic accumulation.

The approach of limiting GSL synthesis by blocking a step in the synthetic pathway was proposed as a means of reducing GSL to a level compatible with residual degradation enzyme activity. This principle has been termed substrate reduction therapy (SRT).

Miglustat functions as a competitive and reversible inhibitor of glucosylceramide synthase, the first enzyme in the synthesis pathway, and as such is used as a substrate reduction therapy.

 

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