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Gaucher’s Disease is an autosomal metabolic disorder. This means that it is inherited from both parents. For a child to develop the disease both the mother and the father must to carry the necessary gene. If in fact the child inherits the disease he or she will experience problems with the liver, spleen, lungs, bone marrow, and in some cases the brain. The disease is caused by excessive amounts of a fatty substance called glucocerebroside. Glucocerebroside accumulates in the organs when there is a deficiency of the enzyme, glucocerebrosidase. This particular enzyme helps break down glucocerebroside. Therefore, if there is a lack of the enzyme, the lipid begins to accumulate, and results can be fatal.
There are three types of this disease. Type 1 is called Adult, this is the most common phenotype, and it typically affects adults and Ashkenazi Jews. Patients with this type usually experience fatigue due to anemia, decreased blood platelets, weakening and pain of the skeleton, lung......

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Approximate Pages: 3 (250 words per double-spaced page)

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