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Gaucher Disease

Gaucher (pronounced ‘go-shay’) Disease is caused by a hereditary deficiency of the enzyme, glucocerebrosidase, in the body. The disease is caused by a recessive gene mutation and affects both males and females.

Approximately 1 in 100 people in the general U.S. population are carriers for Type I Gaucher’s disease. In particular, among people of Ashkenazi Jewish descent, the rate of carriers is considerably higher, at roughly 1 in 15 people. Testing is available to accurately diagnose those people who have the disease or those who may carry the gene.

Diagnosis is available through a specialized blood test. Carrier status can be determined by analyzing a person’s DNA; prenatal diagnosis is also available.

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