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Definition


Gaucher's Disease Definition
Common names:
  • Gaucher's Disease
What is Gaucher's disease?
A person with Gaucher's disease has a hereditary condition that causes mental retardation, as well as liver and spleen enlargement. Gaucher's disease is an inherited disorder. The body does not make an enzyme that is responsible for breaking down glucocerebroside, which is a combination of protein, fat, and glucose. As a result, the molecule builds up in the body and becomes toxic to the brain, liver, spleen and bone marrow. Gaucher's disease is rare and occurs in less than 1 in 1,000 newborns. Images

What are the symptoms of Gaucher's disease?
Symptoms of Gaucher's disease include difficulty walking, poor balance, fatigue, pale skin, arm numbness (unilateral), leg numbness (unilateral), confusion, and seizures.

How does the doctor treat Gaucher's disease?
There is no cure for Gaucher's disease. Treatment for Gaucher's disease includes enzyme replacement therapy, medications to control symptoms, and surgical removal of the spleen.

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Last Updated: Mar 27, 2009  References
Authors: Stephen J. Schueler, MDJohn H. Beckett, MDD. Scott Gettings, MD
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