This enzyme is involved in breaking down a specific fatty substance in the body. Lack of this enzyme causes this fatty substance to accumulate in the bone marrow, spleen, liver, and other parts of the body, and can result in anemia, low platelet count and easy bruising and bleeding, bone pain, and bone fractures, even with little trauma . There are three forms of the disorder. The brain can be affected in some forms of the disorder. However, in type I, the form most common in the Jewish population, the brain is not affected.
Treatment is available through replacement of the deficient enzyme.
With treatment, individuals have a normal lifespan. About 1 in 1,000 in Jews. By measurement of beta-glucosidase in the blood or by testing of Gaucher disease gene. Available by genetic testing of Gaucher disease gene. The Jewish Genetic Disorders Program at Children's Memorial Hospital is supported in part by the Michael Reese Health Trust.