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Curr Treat Options Neurol. 2013 Oct;15(5):634-51. doi: 10.1007/s11940-013-0256-3.

Enzyme replacement in neuronal storage disorders in the pediatric population.

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  • 1Department of Neurology, University of Rochester Medical Center, 601 Elmwood Avenue, Box #631, Rochester, NY, 14642, USA,



In the past 15 years, for select lysosomal storage diseases, there has been a shift from symptom management to disease modification in terms of treatment strategy, mainly related to use of enzyme replacement therapy (ERT). Yet the application of ERT is for very few diseases, and while beneficial, ERT does not represent a cure. For some disorders, the advent of ERT has made a dramatic impact, while for others, benefits have been much more modest. Understanding of the long-term effects as well as the appropriate time for initiation of ERT is under exploration in a number of diseases, while the feasibility of ERT is still being established for others. No definite effects of ERT on central nervous system manifestations of lysosomal storage diseases have been observed for any disease to date. New strategies, including intrathecal enzyme replacement, gene therapy and substrate reduction therapy are being developed in animal models and clinical trials, which hopefully will begin a new era of nervous system disease modification in neuronal storage disorders.

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