In: Biology
McArdle Disease (glycogen storage disease 5) is caused by mutations in the phosphorylase enzyme in muscle. The symptoms are muscle cramps, pain, and fatigue during strenuous exercise. A) An ischemic exercise test is often used as part of the diagnostic process. This test measures lactate in the blood but is not always specific for McArdle. Explain why lactate might be a good diagnostic measurement for this disease and how its production is regulated in muscle in a normal person versus a McArdle patient. B) A patient is undergoing an ischemic exercise test and is fed 13C glucose prior to the test and then blood is drawn after the test. Explain how the following substrates would be labeled 1) alpha-ketoglutarate, 2) glucose 3) ribose, and 4) alanine. C) in patients with McArdle would you expect electron chain activity to increase, decrease, or remain the same in the muscle cell if the person is at rest? exercising?