, Volume 15, Issue 4, pp 928–942 | Cite as

Pompe Disease: From Basic Science to Therapy

  • Lara Kohler
  • Rosa PuertollanoEmail author
  • Nina RabenEmail author


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.

Key Words

Glycogen storage lysosome autophagy myopathy enzyme replacement therapy newborn screening 



We apologize to all colleagues whose publications were not cited because of space limitations.

This research was supported in part by the Intramural Research Program of the National Heart, Lung, and Blood Institute, National Institutes of Health. Dr. Kohler is supported in part by a CRADA between NIH and Genzyme Corporation and by the Acid Maltase Deficiency Association.

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Conflict of Interest

The authors declare that they have no conflict of interest.

Supplementary material

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© This is a U.S. government work and its text is not subject to copyright protection in the United States; however, its text may be subject to foreign copyright protection 2018

Authors and Affiliations

  1. 1.Cell Biology and Physiology Center, National Heart, Lung, and Blood InstituteNational Institutes of HealthBethesdaUSA

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