Differential diagnosis Other glycogen storage diseases

- Other metabolic myopathies

- Mt myopathies

- Congenital myopathies

Hypoglycemia in children needs to be treated with frequent feeding. A high protein diet may improve weakness in adult forms of GSD. In GSD VII patients should avoid high-carbohydrate meals that exacerbate the "out-of-wind" phenomenon, and a ketogenic diet may help. Other potential treatments for GSD V are pyridoxine therapy that improves symptoms in some patients and creatine monohydrate that improves anaerobic but not aerobic exercise capability. Adenoviral-mediated delivery of a myophosphorylase cDNA into myoblasts from patients with McArdle's disease restores myophosphorylase to normal levels, and may prove beneficial as a potential future treatment. Enzyme replacement therapy is also being evaluated in GSD II.

In GSD II (infantile form) death occurs before 1 year of age, in the childhood form before 25 years. In infantile GSD III death occurs before 4 years, childhood and adult forms survive longer. GSD V has a normal life expectancy. In other forms of GSD life expectancy may be normal unless severe myoglobinuria and muscle necrosis occurs.

References Chou JY (2001) The molecular basis of type 1 glycogen storage diseases. Curr Mol Med 1:


DiMauro S, Lamperti C (2001) Muscle glycogenoses. Muscle Nerve 24: 984-999 Martin MA, Rubio JC, Buchbinder J, et al (2001) Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study. Ann Neurol 50: 574-581

Nakajima H, Raben N, Hamaguchi T, et al (2002) Phosphofructokinase deficiency; past, present and future. Curr Mol Med 2: 197-212

Tsujino S, Nonaka I, DiMauro S (2000) Glycogen storage myopathies. Neurol Clin 18: 125-150



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