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Review
. 2018 Oct;15(4):928-942.
doi: 10.1007/s13311-018-0655-y.

Pompe Disease: From Basic Science to Therapy

Lara Kohler  1 , Rosa Puertollano  2 , Nina Raben  3
Affiliations
Review

Pompe Disease: From Basic Science to Therapy

Lara Kohler et al. Neurotherapeutics. 2018 Oct.

Abstract

Pompe disease is a rare and deadly muscle disorder. As a clinical entity, the disease has been known for over 75 years. While an optimist might be excited about the advances made during this time, a pessimist would note that we have yet to find a cure. However, both sides would agree that many findings in basic science-such as the Nobel prize-winning discoveries of glycogen metabolism, the lysosome, and autophagy-have become the foundation of our understanding of Pompe disease. The disease is a glycogen storage disorder, a lysosomal disorder, and an autophagic myopathy. In this review, we will discuss how these past discoveries have guided Pompe research and impacted recent therapeutic developments.

Keywords: Glycogen storage; autophagy; enzyme replacement therapy; lysosome; myopathy; newborn screening.

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Conflict of interest statement

The authors declare that they have no conflict of interest.

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