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Glycogen Storage Disease Type 3 Essay

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screenings in multiple populations, it was concluded that the most common mutation shared between Caucasians is R864X. There are four types of Glycogen Storage Disease type III according to Lucchiari (2007). These types are known as type IIIa, type IIIb, type IIIc, and type IIId. These types are dependent on what activity they have a deficiency in. Glycogen Storage Disease type IIIa is when a patient does not have any activity of glucosidase and transferase in their liver and in their muscles. Type IIIb means that the patient does not have any activity of glucosidase and transferase in only the liver. These patients are different from type IIIa because they have activity of glucosidase and transferase in their muscles. Type IIIc is when someone only has selective loss of activity of glucosidase. Type IIId is a lot like type IIIc except instead …show more content…

These procedures include tolerance tests. One test is the epinephrine tolerance test. Another test is the glucagon tolerance test. There were some issues with the glucagon tolerance test according to Fernandes (1969). This test had some issues in diagnosing liver disease because it showed that some patients had high rise in blood glucose levels. This was an issue because many normal and healthy children have high levels of blood glucose and since some of the patients they were testing were children, the results were inconclusive and could not necessarily determine if that patient had any liver glycogen diseases. So it was decided that this test only gave good results if it was used on older patients to whom they could dictate if their blood glucose levels were too high compared to a healthy adult, which would then determine if they had liver glycogen disease. Also this test could be performed after the patient performed a long fast, in order to lower their blood glucose levels. This fast is commonly eight

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