Pompe Disease Research Paper
Pompe disease is an inheritable problem caused by the buildup in the cells of the simple sugar, Glycogen. While the underlying problem is the lack of a specific enzyme called acid alpha-glucosidase. When the cells start to have this build up, the organs that they make up start to not function properly. There is known to be three types of this disease that show how severe they are. This is best known through the age in which it first stands out in a person, the younger they are the more severe it will most likely be. Some symptoms may include progressive muscle weakness, delayed motor milestones in children, difficulty walking in adults, respiratory insufficiency, weakened spinal muscles, swallowing/feeding difficulties, poor weight gain, general muscle pain, and headaches. While these may seem harsh, and there is no known cure, there are treatments to help lower the effects such as: Enzyme replacement therapy (Targets the underlying cause) , comprehensive care, and supportive therapies.
Pompe disease affects the lysosome in the cell which normally aids the digestion in the
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The lysosome then cannot break down sugars and slows the digestive system. These sugars are found in muscle cells which makes the overall muscle weaker when the cells are affected by the lack of AGG. The malfunction of this organelle may cause many issues for the other organelles in the cell. The lysosome becomes overpacked when the excess of glycogen builds up. The bloating of the lysosome may end up in its rupture which would severely damage the other organelle and ruin their functions. Enzyme replacement therapy affects the lysosomal storage so it will not become too full and rupture by replacing the non working enzymes with fully functional ones. This can be a life of a difference in a patient as they will then develop mostly
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