Gaucher 's Disease ( Glucocererbrosidase )

1113 WordsOct 31, 20165 Pages
Gaucher’s disease which is also identified as glucocererbrosidase deficiency, this happens when the lipid, glucosylceramide, builds up in bone marrow, lungs, spleen, liver and sometimes the brain. It’s a hereditary disease. When the lipid as mentioned earlier is faulty glucosylceramide accumulates more commonly in the microphages which is a type of white blood cell. Guacher’s is classified as a Lysosomal Storage Disease, this happens when a person lacks an enzyme that gets rid of undesirable materials within the cells. This enzyme resides in lysosomes, the sac-like structures inside the cells. They are the garbage man of the cell. They breakdown material that still can be used and dispels the one which can no longer be used. When the lysosome can no longer breakdown the waste in the cell, it can cause serious health problems to the individual. According to the National Gaucher Foundation about 1 0f 20,000 live births have Gauchers. But the FDA says 1 out of 50,000 live births or 1 out of 100,000 live births. Gauchers is an inherited disorder that is more commonly found in Ashkenazi Jews of Eastern and Central Europe The signs and symptoms of Gaucher’s Disease vary widely, identical twins with the disease can have very different symptom and different levels of severity. While some people can have the disease and show no signs at all. For reference Symptoms are things patients can feel, while signs are somethings others can detect. One of the first symptoms are abdominal

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