Prevalence and Transmission of Gaucher Disease

Gaucher Disease is an inborn error of metabolism. Inborn metabolic disorders are those conditions resulting from a specific malfunction in one or more of the body's many individual chemical processes. Although there are at least 34 mutations known to cause Gaucher Disease, there are 4 genetic mutations which account for 95% of the Gaucher Disease in the Ashkenazi Jewish population, and 50% of the Gaucher Disease in the general population. These can be identified through a blood test. 

The carrier rate for the mutations which cause Gaucher Disease may be as high as 1 in 15 Jewish people of Eastern European ancestry, and 1 in 100 of the general population. Gaucher Disease is transmitted as an autosomal recessive; that is, it occurs equally among males and females, and both parents must carry the mutation for the child to have the disease. If both parents are carriers, then there is a 1 in 4 chance that the child will have Gaucher Disease, a 1 in 2 chance that the child will not have the disease but will be a carrier, and a 1 in 4 chance that the child will neither have the disease nor be a carrier.