Gaucher's Disease: an Inborn Error of Metabolism

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  • Topic: Gaucher's disease, Platelet, Glucocerebrosidase
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  • Published : April 10, 2011
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Gaucher disease was first recognized by the French doctor Philippe Gaucher, who originally described it in 1882 and lent his name to the condition. It is an autosomal recessive genetic disorder caused by a lack of the enzyme glucocerebrosidase (“NINDS”). When this enzyme is not present, there is an accumulation of lipids in cells and certain organs. This accumulation can lead to further problems such as enlargement of the spleen and liver, painful bone lesions, swelling of lymph nodes, and anemia to name a few. This disorder is most common in the Ashkenazi Jewish population, but can occur in any race (“NINDS”). The genetics of Gaucher disease as well as the symptoms, treatments, and testing will be further discussed in the remainder of this paper. Background

Gaucher disease is the most common lysosome storage disorder (LSD). As discussed above, people with Gaucher disease lack the normal form of the glucocerebrosidase enzyme and are unable to break down glucocerebroside in the lysosomes. Also in the lysosomes are macrophages that eat worn-out cells and recycle them. Without the glucocerebrosidase enzyme, glucocerebroside builds up in the lysosomes and prevents macrophages from functioning properly. (“Living with Gaucher Disease”) Figure 1 in the appendix shows a Gaucher cell in which the nucleus is pushed off to the side, and the remainder of the cell is filled with abnormal lipids. Genetics

There are three types of Gaucher disease that are inherited in an autosomal recessive fashion. Both parents must be carriers in order for a child to be infected. If two carriers have children there 25% chance that each child born to them will have the disease. Figure 2 in the appendix shows the expected progeny for two parents who are carriers for Gaucher disease. There are three types of Gaucher disease. In general, the later in life the first symptoms appear, the less likely that the disease will be severe. Type I

Type I is by far the most...
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