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Gaucher's disease - Essay Example

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Gaucher's disease

(www.cerezyme.com) However, the observation of the glucocerobtosidase levels will aid physicians make the correct prognosis. Glucocererobrosidase is an enzymatic protein that helps breakdown a
catalyze glucocerebrosides (fat molecule) into glucose and sphingosine. A victim of Gaucher's disease lacks this enzyme. Therefore, the undigested lipid molecules accumulate in the cytological framework within a cell. Cells
the deficiency of this enzyme commences at an infantile age, fat deposition accumalates in the brain and causes mental retardation culminating to death. At the juvenile and adult stage, victims will experience an engorged spleen
and kidneys with lipids. Also, mild anaemia, haemorrhaging, and the fragility of bones accompanied with the lipid deposition are experienced as well. It may also accumulate on neurons and lungs as well as increase the victim's risk to infection. Those who are of Ashkenazi Jewish heritage are susceptible to have this type of a metabolic disorder. (www.wikipedia.com)
The disease is animated by a defect in a "house-keeping" gene known as the b-glucocerebrosidase at the locus of the first chromosome. This enzyme consists 497 amino acids. This disease is genetic defect that spreads through hereditary functions. For a person to express the phenotype of this disease, both parents, albeit they may not ...Show more

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understand any given contagion and develop prevention methods against it. As physicians perform and discover better research techniques, they discovered not all diseases are caused by pathogens outside the body. Gaucher's disease is one of many diseases which does
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Gauchers disease essay example
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