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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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References

    1. Pompe JC. Over idiopatische hypertrophie van het hart. Ned Tijdschr Geneeskd. 1932;76:304.
    1. Bischoff G. Zum klinischen Bild der Glykogen-Speicherungs-Krankheit (Glykogenose) Zeitschrift fur Kinderheikunde. 1932;52:722.
    1. Putschar and Walter Uber angeborene Glykogenspeicher-Krankheit des Herzens. “Thesaurismosis glycogenica” (v. Gierke) Beitr Pathol Anat Allg Pathol. 1932;90:222.
    1. Cori GT. Enzymes and glycogen structure in glycogenosis. Osterreichische Zeitschrift fur Kinderheilkunde und Kinderfursorge. 1954;10(1–2):38–42. - PubMed
    1. De Duve C, Pressman BC, Gianetto R, Wattiaux R, Appelmans F. Tissue fractionation studies. 6. Intracellular distribution patterns of enzymes in rat-liver tissue. Biochem J. 1955;60(4):604–617. - PMC - PubMed

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