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The Hunger Project Bolen Report
Ohm Society
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Glucocerebrosidase Deficiency Print E-mail

Dr. Kennedy Glucocerebrosidase deficiency causes type 1 Gaucher disease, a progressive genetic disease due to an enzyme defect. The enzyme, glucocerebrosidase, is needed to break down the chemical glucocerebroside. The enzyme defect leads to the progressive accumulation of glucocerebroside in the spleen, liver, and lymph nodes. Gaucher disease is the most common genetic disease in Ashkenazi Jews (European Jews) and in American and Canadian Jews. A common early sign of the disease is enlargement of the spleen (located in the upper left abdomen). Other common signs include anemia, a decrease in blood platelets, increased pigmentation of the skin, and a yellow fatty spot on the white of the eye (a pinguecula). Severe bone involvement can lead to pain and collapse of the bone of the hips, shoulders, and spine. The risk for the parents having a child with the disease is 1 in 4 with each pregnancy.



The information in this article is not meant to be medical advice.�Treatment for a medical condition should come at the recommendation of your personal physician.

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