Video - Gaucher disease (NORD)

Gaucher disease (GD) is a rare, inherited disorder that affects the body's ability to break down glucocerebroside molecules, because there is a lack of an enzyme called glucocerebrosidase that normally breaks down this molecule. This results in the accumulation of glucocerebrosidase in the lysosomes of macrophages, and other tissues, in different parts of the body.

There are three major types of Gaucher disease, depending on which tissues are most affected. In type 1 Gaucher disease, bone marrow cells are the most affected, which can lead to bone marrow fibrosis and anemia, and hepatosplenomegaly. In type 2 Gaucher disease, neurons in the brain are damaged and symptoms progress rapidly, resulting in death within the first few years. Finally, type 3 Gaucher disease is like type 2, but the symptoms develop at a slower rate.