Gaucher disease is a genetic disorder which, like Tay Sachs disease, is common in individuals of Jewish ancestry. Those with the disease have abnormal accumulations of a chemical, glucosylceramide, in some of their internal organs. The most serious form of Gaucher disease causes death in infancy from neurologic complications. Other affected individuals may have a form of the disease that does not affect the brain, but which nevertheless causes significant, chronic illness. About one person in 20 in the Jewish population is a Gaucher disease carrier.
Carriers are asymptomatic.
Most have no family history of the disease. When two carriers conceive a child, there is a 1 in 4 chance that the child will actually have Gaucher disease. Recently, it has become possible to identify the majority of individuals who are Gaucher carriers, or affected with the disease, by DNA analysis of the Gaucher gene. Individuals of Jewish ancestry can now be offered the option of reliable Gaucher carrier testing as well as Tay Sachs carrier testing. If only one member of a couple is tested, the test is negative, and the partner is not tested, their chance of an affected child is approximately 1 in 30,000.