Gaucher disease

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Gaucher disease

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

The three types of Gaucher disease are described 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 medicines. Support groups and counseling can be helpful for people with Gaucher disease and for their families. Genetic testing is recommended to identify carriers of the disease and help guide decisions about having children.

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Author	Maria G. Essig, MS, ELS
Editor	Susan Van Houten, RN, BSN, MBA
Associate Editor	Pat Truman, MATC
Primary Medical Reviewer	Sarah Marshall, MD - Family Medicine
Specialist Medical Reviewer	Siobhan M. Dolan, MD, MPH - Reproductive Genetics
Last Updated	April 23, 2008

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Last updated:	April 23, 2008
Author:	Maria G. Essig, MS, ELS
Reviewed By:	Sarah Marshall, MD - Family Medicine, Siobhan M. Dolan, MD, MPH - Reproductive Genetics
Editors:	Susan Van Houten, RN, BSN, MBA, Pat Truman, MATC

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