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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

Abstract

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.

Keywords

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.

Abbreviations

AAV

adeno-associated virus

AFP

alpha-fetoprotein

CRIM

cross-reacting immune material negative

ERT

enzyme replacement therapy

G6Pase

glucose-6-phosphatase

G6Pase-KO

G6Pase knockout

GAA-KO

GAA knockout

Glc4

Glcα1-6Glcα1-4Glcα1-4Glc

GSD I

glycogen storage disease type I

GSD II

glycogen storage disease type II

GSD

glycogen storage disease

HCC

hepatocellular carcinoma

rhGAA

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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