Gaucher disease

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Gaucher disease

Gaucher disease is an inherited disorder caused by the deficiency of an enzyme, glucocerebrosidase. This enzyme deficiency leads to the progressive buildup of a fatty substance (glucocerebroside) in cells found in the liver, spleen, and bone marrow (Gaucher cells).

The three types of Gaucher disease are divided by the presence and severity of nervous system complications.

Type 1 disease does not involve the nervous system. It is the most common form affecting Ashkenazi Jews.
Type 2 disease is a fatal nervous system disease and is diagnosed during infancy. It is similar to Tay-Sachs disease, also a rare inherited disorder.
Type 3 disease is a slowly progressive nervous system disease. People with this type of Gaucher disease usually live into adulthood.

Gaucher disease is treated with enzyme replacement medications. Genetic testing is recommended to identify carriers of the disease and help guide decisions about having children.

Credits

Author	Jeannette Curtis
Author	Caroline Rea, RN, BS, MS
Editor	Kathleen M. Ariss, MS
Editor	Susan Van Houten, RN, BSN, MBA
Associate Editor	Tracy Landauer
Associate Editor	Pat Truman
Primary Medical Reviewer	Patrice Burgess, MD - Family Medicine
Primary Medical Reviewer	Adam Husney, MD - Family Medicine
Primary Medical Reviewer	Kathleen Romito, MD - Family Medicine
Last Updated	May 25, 2007

Last updated:	May 25, 2007
Author:	Caroline Rea, RN, BS, MS
Reviewed By:	Kathleen Romito, MD - Family Medicine
Editors:	Susan Van Houten, RN, BSN, MBA, Pat Truman

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