Gaucher disease

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Bone marrow aspiration

Gaucher cell, photomicrograph

Gaucher cell, photomicrograph #2

Hepatosplenomegaly

Glucocerebrosidase deficiency; Glucosylceramidase deficiency

Enzyme replacement therapy is available. A bone marrow transplant may be needed in severe cases.

For more information contact:

• Childrens Gauchers Disease Research Fund: www.childrensgaucher.org
• National Gaucher Foundation: www.gaucherdisease.org

How well a person does depends on the subtype of the disease. The infantile form of Gaucher disease may lead to early death. Most affected children die before age 5.

Adults with the type 1 form of the disease can expect normal life expectancy with enzyme replacement therapy.

• Seizures
• Anemia
• Thrombocytopenia
• Bone problems

Review Date: 11/12/2010
Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org).

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