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.
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.
Last Revised: March 28, 2012
Author: Healthwise Staff
Medical Review: Patrice Burgess, MD - Family Medicine & Siobhan M. Dolan, MD, MPH - Reproductive Genetics
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