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Gauchers's Disease Research Paper

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The glucocerebrosidase is an enzyme that gets split by hydrolysis. The chemical glucocerebroside is transitional in the glycolipid metabolism. The glucocerebrosidase is the beta-glucosidic linkage of the glucocerebroside; it is located in the lysosome and also has a molecular weight of Daltons.

The Gauchers disease is a disease that is affected by the glucocerebrosidase enzyme due to it not working properly. In the Gauchers disease your organs become much more substantial than normal which usually affects their function. Also if there is bone tissue building up then it will result in the weakening of the bone and increases the risk of fractures. The disease can also affect the bone marrow, which can lead it to interfere with the bloods ability …show more content…
One treatment included is often enzyme replacement therapy. The disease can occur at any age and to have the disease both parents have to have it the disease is transmitted with autosomal recessive. There are of course different severity of the disease. Siblings and even identical twins can have different levels. The symptoms depend on the person; some people can have severe symptoms however others can have no symptoms at all. Some indications can be abdominal discomfort, skeletal irregularities, and blood disorders. The abdominal pain can be due to the liver and the spleen enlarging severely. Also the abdomen can painfully expand. Skeletal abnormalities can be due to the disease weakening the bone which increases the risk of painful fractures and impede with the blood source to your bones which can result in your bone dying. The blood disorders can happen due to the reduction of healthy red blood cells which is anemia; this can result in severe fatigue. The disease can also lead to clotting which results in easy layman’s term (bruise) and epistaxis (nosebleed). Not only is the gauchers disease bad it also has negative impacts in increase the risk of having some other problems. For example, it can result in growth delays in children, Parkinson’s disease. It can also increase the risks of cancers like myeloma, leukemia, and

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