There are three different types of Gaucher (pronounced go-shay) disease (type I, II, III). Type I is the most common form of the disease; an estimated one in 14 Ashkenazi Jews is a carrier. The gene is located on chromosome 1. The signs and symptoms of Gaucher disease vary greatly and can appear at any age. The most common symptom of type I Gaucher disease is an enlargement of the spleen and/or liver, which is usually painless. There is no central nervous system involvement. Other symptoms may include bruising, bone pain, frequent nosebleeds, and a lack of energy. Also, children with type I Gaucher disease may be shorter than their peers and may have delayed puberty.

People with Gaucher disease lack an enzyme called glucocerebrosidase and are unable to break down a fatty substance in their cells. Therefore, this fatty substance builds up in the liver, spleen, bone marrow and other areas of the body. This buildup leads to the signs and symptoms seen in Gaucher disease.

Although there is no cure for Gaucher disease, there are some treatments available for managing and relieving the symptoms. Enzyme replacement therapy is an effective, yet time consuming, form of treatment. The treatment consists of a modified form of the glucocerebrosidase enzyme given intravenously. This therapy can lead to an improved quality of life for affected individuals and their families.