Gaucher Disease is an enzyme deficiency which may lead to an enlarged spleen and liver, liver malfunction, skeletal disorders and bone lesions that may cause pain, severe neurologic complications, swelling of lymph nodes and (occasionally) adjacent joints, distended abdomen, a brownish tint to the skin, anemia, low blood platelets and yellow fatty deposits on the sclera. It is an autosomal recessive disorder caused by mutations in the GBA gene. It occurs more frequently in the Ashkenazi Jewish population, where the carrier rate is 1 in 15. Ashkenazi Jewish individuals with a negative family history who test negative for the N370S, Delta55bp, V394L, D409H, L444P, R496H, 84G>GG and IVS2+1G>A mutations in GBA have a revised carrier risk of 1 in 280.