Gaucher disease it a relatively frequent recessive disease affecting 1 in 400.000 to 1 in 200.000 persons and 1 in 400 to 1 in 2000 persons among Ashkenazi Jews. The gene coding for beta-glucocerebrosidase is located on chromosome 1q21-q31.
Type 1 Gauche disease is the most common type but is only occasionally observed in children. There is no involvement of the CNS except in rare cases.
Type 2 Gaucher disease or neuropathic type is also due to glucosyl ceramide beta-glucosidase deficiency.