Gaucher’s disease is an autosomal recessive inherited disorder resulting from deficiency of acid beta-glucosidase. It is characterized by thrombocytopenia, anemia, hepatosplenomegaly, and bone pain.

The incidence of Gaucher’s disease in non-Jewish populations is 1:40,000. For the Ashkenazi Jewish population, the carrier rate is 1:15, whereas the disease rate is 1:855. In those of Norrbottnian Swedish descent, the incidence of Type III Gaucher’s disease is 1:50,000.

All three types of Gaucher’s disease are caused by deficiency of the acid β-glucoside as the result of a mutation in the structural gene providing the enzyme encoding.