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
Type 1 disease does not involve the nervous
system. It is the most common form affecting Ashkenazi Jews.
2 disease is a fatal nervous system disease and is diagnosed during infancy. It
is similar to Tay-Sachs disease, also a rare inherited
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.
Patrice Burgess, MD - Family Medicine & Siobhan M. Dolan, MD, MPH - Reproductive Genetics
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