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Gaucher disease

• Overview
• Symptoms
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Definition:

Gaucher disease is a rare genetic disorder in which a person lacks an enzyme called glucocerebrosidase.

Alternative Names:

Glucocerebrosidase deficiency; Glucosylceramidase deficiency

Causes, incidence, and risk factors:

Gaucher disease affects an estimated 1 in 50,000 to 1 in 100,000 people in the general population. Persons of Eastern and Central European (Ashkenazi) Jewish heritage are at highest risk for the disease.

It is an autosomal recessive disease. This means that the mother and father must both pass one abnormal copy of the gene to the child in order for the child to develop the disease. A parent who silently carries an abnormal copy of the gene is called a carrier.

The lack of the glucocerebrosidase enzyme causes harmful substances to build up in the liver, spleen, bones, and bone marrow. The substances prevent cells and organs from working properly.

There are three main subtypes of Gaucher disease:

• Type 1 disease is most common. It involves bone disease, anemia, an enlarged spleen and thrombocytopenia. Type I affects both children and adults. It is most common in the Ashkenazi Jewish population.
• Type 2 disease usually begins in infancy with severe neurologic involvement. This form can lead to rapid, early death.
• Type 3 disease may cause liver, spleen, and brain problems. Patients may live into adulthood.

References:

Behrman RE. Nelson Textbook of Pediatrics. 17th ed. Philadelphia, Pa: WB Saunders: 2004; 463-464.

Kumar V, Abbas AK, Fausto N. Robbins and Cotran Pathologic Basis of Disease . 7th ed. St. Louis, Mo: WB Saunders; 2005:163-165.

Sidransky E, Lamarca ME, Ginns EI. Therapy for Gaucher disease: Don't stop thinking about tomorrow. Mol Genet Metab . 2007 Feb;90(2):122-5. Epub 2006 Nov 3.

• Review Date: 2/14/2007
• Reviewed By: Leisha M. Andersen, M.D., Private Practice specializing in Pediatrics, Denver, CO. Review provided by VeriMed Healthcare Network.

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