Gaucher disease is a rare, inherited disorder characterized by the accumulation of fatty substances in certain cells and organs. This is due to a deficiency in the enzyme glucocerebrosidase, which is responsible for catalyzing the hydrolysis of glucocerebroside into glucose and ceramide. The lack of this enzyme leads to the accumulation of glucocerebroside, primarily in the spleen, liver, and bone marrow, causing various symptoms such as organ enlargement, bone pain, and fatigue.
