Paper Summary:

The paper explains what V glycogen storage disease is and how a person is affected by this disease. The paper also looks at the diagnosis, genetics and treatments available.

Outline:
Symptoms
Diagnosis
Genetics
Treatment
Conclusion

From the Paper:

"Type V Glycogen Storage Disease (GSDV), commonly known as McArdle's disease, is a metabolic disease of the muscle in which the catabolism of glycogen cannot occur to an appreciable extent due to a deficiency in the muscle glycogen phosphorylase enzyme (myophosphorylase). GDSV patients are said to have approximately 1.7% of the normal levels of myophosphorylase exhibited by normal, non-afflicted adults.1 As a result, substrate level phosphorylation is greatly compromised as glycogen cannot be used to make adenosine tri-phosphate (ATP), which leaves energy production highly dependent upon gluconeogenesis and the limited phospho-creatine (PCr) system. However, the process of ATP generation by means of oxidative phosphorylation is not affected as glycolysis is not involved. Therefore, those with GSDV can perform predominantly aerobic activities such as walking without ailment, but start to show signs of the disease with the onset of anaerobic activity, such as lifting heavy objects or straining. "

Sample of Sources Used:

• Lofberg et al. ATP, phosphocreatine and lactate in exercising muscle in mitochondrial disease and McArdle's disease. Neuromuscul Disord 2001;11(4):370-375.
• Haller RG. Treatment of McArdle disease. Arch Neurol 2000;57:923-924.
• Gordon N. Glycogenosis type V or McArdle's disease. Dev Med Child Neurol 2003;45:640-644.
• Becker WM, Kleinsmith LJ, Hardin J. In: Enzymes: the catalysts of life: The World of the Cell. 6th ed. San Francisco, CA:Pearson Education Inc.;2006:143-146.
• Martinuzzi A, Schievano G, Nascimbeni A, Fan In M. McArdle's disease: the unsolved mystery of the reappearing enzyme. Am J Pathol 1999;154(6):1893-1897.

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