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 counselling 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.