Stephen J. Schueler, M.D.

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Gaucher's Disease Underlying Cause

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.

There are three types of Gaucher's disease:

  • Type 1: Symptoms of enlarged liver, spleen, anemia and lung involvement usually begin in older children or young adults. The brain is not affected. Sometimes this form is very mild.
  • Type 2: A severe form that occurs in infants, usually causing death by age 2 from severe neurologic disease or anemia.
  • Type 3: A mild form that usually begins in early adults. Mild symptoms due to liver, spleen, skeletal, neurologic, anemic and other problems are usually present. Brain damage can occur in this form.

Continue to Gaucher's Disease Types

Last Updated: Mar 18, 2009 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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