Journal of Inherited Metabolic Disease

, Volume 30, Issue 2, pp 159–164 | Cite as

Glycogen storage disease types I and II: Treatment updates

  • D. D. Koeberl
  • P. S. Kishnani
  • Y. T. Chen
ICIEM 2006


Prior to 2006 therapy for glycogen storage diseases consisted primarily of dietary interventions, which in the case of glycogen storage disease (GSD) type II (GSD II; Pompe disease) remained essentially palliative. Despite improved survival and growth, long-term complications of GSD type I (GSD I) have not responded to dietary therapy with uncooked cornstarch or continuous gastric feeding. The recognized significant risk of renal disease and liver malignancy in GSD I has prompted efforts towards curative therapy, including organ transplantation, in those deemed at risk. Results of clinical trials in infantile Pompe disease with alglucosidase alfa (Myozyme) showed prolonged survival reversal of cardiomyopathy, and motor gains. This resulted in broad label approval of Myozyme for Pompe disease in 2006. Furthermore, the development of experimental therapies, such as adeno-associated virus (AAV) vector-mediated gene therapy, holds promise for the availability of curative therapy in GSD I and GSD II/Pompe disease in the future.


Enzyme Replacement Therapy Newborn Screening Glycogen Storage Disease Pompe Disease Glycogen Storage Disease Type 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



adeno-associated virus




cross-reacting immune material negative


enzyme replacement therapy




G6Pase knockout


GAA knockout




glycogen storage disease type I


glycogen storage disease type II


glycogen storage disease


hepatocellular carcinoma


recombinant human acid alpha-glucosidase


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Copyright information

© SSIEM and Springer 2007

Authors and Affiliations

  1. 1.Division of Medical Genetics/Department of PediatricsDuke University Medical CenterDurhamUSA
  2. 2.Institute of Biomedical SciencesAcademia Sinica

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