Pompe Disease Case Study

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Introduction Pompe Disease is also referred to as GAA Deficiency, Glycogenesis Type II, and Glycogen Storage Disease Type II. It is a lysosomal storage disorder that must be passed down by both parents due to the fact that it is a recessive mutation in genes (Type II, 2014). As a lysosomal disorder, Pompe Disease is the inability of lysosomes to breakdown glycogen into glucose and causes the glycogen to build up inside the lysosome (Pompe, 2010). The glycogen build up has specific effects on the muscles of the body
I chose Pompe Disease because of its effects on the muscular system. Also, I feel that, because of its specific effects directly on the lysosomes of cells causing it to be a rare disorder, it does not receive enough attention.
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The Acid Alpha-Glycosidase enzyme gene has been pinpointed to the 17th chromosome at the position of q25.2-25.3(Zampieri, 2011). GAA is an enzyme present in the lysosome of cells for the purpose of breaking down glycogen into the usable product of glucose (Manganelli, 2013). The lack of or absence GAA causes glycogen to build up in the lysosomes of the cell until it can no longer take in anymore (Barohn, 2011). When the lysosome can no longer contain the excess glycogen that is not being broken down, the lysosome bursts and the glycogen spreads throughout the cell causing damage to the other parts of the cell; this especially has an effect on muscle cells by causing them to weaken (Manganelli, …show more content…
There are a few different ways to determine whether or not this is the disorder that a patient is suffering from, including blood testing and a muscle biopsy to test for a deficiency in the needed GAA enzyme. It is an extremely severe disorder when someone is diagnosed with it at a young age. If it develops later in life it may not be as severe or develop as rapidly; there is a greater possibility of lessening its effects. There is no cure for this disease but there are treatment options to lessen the effects, including Enzyme Replacement Therapy and therapies specific to a patient’s

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