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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
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.
March 28, 2012
Patrice Burgess, MD - Family Medicine & Siobhan M. Dolan, MD, MPH - Reproductive Genetics
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