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Review
. 2007 Apr;30(2):159-64.
doi: 10.1007/s10545-007-0519-9. Epub 2007 Feb 16.

Glycogen storage disease types I and II: treatment updates

D D Koeberl  1 , P S Kishnani, Y T Chen
Affiliations
Review

Glycogen storage disease types I and II: treatment updates

D D Koeberl et al. J Inherit Metab Dis. 2007 Apr.

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.

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Figures

Fig. 1
Fig. 1
Analysis of the response to AAV vectors in GSD Ia. Blood glucose in an affected GSD Ia dog following administration of an AAV2/8 vector encoding human G6Pase at 3 and 10 days of age (1 × 1013 vector particles/kg each dose). The range for untreated, affected dogs is shown (box)
See this image and copyright information in PMC

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