Gaucher Disease: A Rarity in Three Types
Ethnicity can provide individuals with wonderful traditions and celebrations of one's heritage. However, for some Ashkenazi Jews, ethnicity brings them much more than they bargained for: a rare condition causing a wide array of liver, lung, spleen, bone and bone problems. Ethnicity brings them Type I Gaucher Disease. Type II and Type III are the two other forms of this rare genetic condition, and can occur at equal frequencies in all ethnic groups. Gaucher disease was first described in 1882 by Doctor Philippe Charles Ernest Gaucher from France (2) . Type I , the most frequently seen form of the disease, can affect people of multiple ethnic backgrounds. However, its prevalence is greatest by far in the Ashkenazi Jewish population, making it the most common genetic disease within this ethnic group.
While the Type I Gaucher Disease is non-neuronopathic (not affecting the nervous system) the second two types are neuronopathic. Yet even though the three types of Gaucher produce different symptoms, all three types result from the same cause: a lack of glucocerebrosidase enzyme. The glucocerebrosidase enzyme functions to break down the compound glucocerebroside, a fatty compound which usually is stored in all cells of the body in very small amounts. In Gaucher patients, an excess of glucocerebroside builds up in the body, and is stored abnormally in lysosome, or storage cells (3) . Typically, macrophages are able to aid in the degradation process of glucocerebroside. However, due to the lack of glucocerebrosidase in Gaucher patients, glucocerebroside stays in the lysosome, preventing macrophages from acting upon them. Macrophages which are enlarged and contain an abnormal buildup of...
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...se exhibited in Type I .
Internet Sources:
1)Living With Gaucher Disease, from Massachusetts General Hospital
http://spauldingrehab.mgh.harvard.edu/gaucher/living.html
2)Gaucher Disease in Ashkenazic Jews
http://www.gauchersoutheast.com/articles/ashkenazic.html
3)The NTSAD Diseases Family: Gaucher Disease , from NTSAD
http://www.ntsad.org/pages/gaucher.htm
4)Gaucher Disease – Rare Disorders-Medstudent , from Medstudents.com
http://www.medstudents.com.br/raredi/raredi2.htm
5) Scientific American:Ask the Experts: Medicine -
What is Gaucher Disease? Are there treatments? , from Scientific American
http://www.sciam.com/askexpert_question.cfm?articleID=000F280F-76AF-1C71-9EB7809EC588F2D7
6) Health Topics A-Z: Gaucher Disease , from Ahealthyme.com
http://www.ahealthyme.com/topic/404.jhtml;jsessionid=J3IJ3KQK3XS0KCTYAEPC4EQ?_requestid=502549
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