Gaucher Disease occurs at any age, but it is most dangerous and most severe in infants. In essence, Gaucher Disease results from the deposition of glucocerebroside in the liver, bone marrow, and spleen. The enzyme glucocerebrosidase normally breaks down glucocerebroside, but patients with Gaucher Disease do not manufacture enough of the enzyme, and deposition of glucocerebroside results. The symptoms of Gaucher Disease are extremely variable. Each person can exhibit a very different clinical course.
Symptoms range from mild to severe and can appear at anytime from infancy to old age.
In addition to individual variability, Gaucher Disease occurs in three major types. Persons with Gaucher s have an increased cancer risk. Type II and III are the rarer types which often present with neurological problems. Gaucher s Disease is the most common genetic disease among jews. An estimated one in 450 to one 1500 in people of Ashkenazi descent are carriers.