Energy Deficiency and GSD III

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Muscle weakness in Glycogen Storage Disease type III (debranching disease) is thought to be due to overall muscle wasting. However, Preisler N., et al (Mol Genet Metab. 2013 May;109(1):14-20) recently demonstrated that insufficient muscle glycogenolytic capacity, in combination with liver involvement, contributes significantly to muscle fatigue. This is an interesting finding, in light of the fact that rhabdomyolysis is not typically thought to be a significant component of this disease.

Hilary Vernon MD PhD

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