Stephen J. Schueler, M.D.

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Gaucher's Disease Overview

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.

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.

Continue to Gaucher's Disease Incidence

Last Updated: Dec 14, 2010 References
Authors: Stephen J. Schueler, MD; John H. Beckett, MD; D. Scott Gettings, MD
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PubMed Gaucher's Disease References
  1. Brady RO. Gaucher's disease: past, present and future. Baillieres Clin Haematol. 1997 Dec;10(4):621-34. [9497855]
  2. Germain DP. Gaucher's disease: a paradigm for interventional genetics. Clin Genet. 2004 Feb;65(2):77-86. [14984463]
  3. Niederau C, Haussinger D. Gaucher's disease: a review for the internist and hepatologist. Hepatogastroenterology. 2000 Jul-Aug;47(34):984-97. [11020862]
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