Pompe Disease: From Basic Science to Therapy
- PMID: 30117059
- PMCID: PMC6277280
- DOI: 10.1007/s13311-018-0655-y
Pompe Disease: From Basic Science to Therapy
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.
Conflict of interest statement
The authors declare that they have no conflict of interest.
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References
-
- Pompe JC. Over idiopatische hypertrophie van het hart. Ned Tijdschr Geneeskd. 1932;76:304.
-
- Bischoff G. Zum klinischen Bild der Glykogen-Speicherungs-Krankheit (Glykogenose) Zeitschrift fur Kinderheikunde. 1932;52:722.
-
- Putschar and Walter Uber angeborene Glykogenspeicher-Krankheit des Herzens. “Thesaurismosis glycogenica” (v. Gierke) Beitr Pathol Anat Allg Pathol. 1932;90:222.
-
- Cori GT. Enzymes and glycogen structure in glycogenosis. Osterreichische Zeitschrift fur Kinderheilkunde und Kinderfursorge. 1954;10(1–2):38–42. - PubMed
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