Home > Encyclopedia of Neurological Disorders > Gaucher Disease

Definition

Gaucher disease is a rare, inherited disorder in which a deficient or missing enzyme causes an abnormal buildup of a fatty substance called glucosylceramide throughout the body. Abnormal accumulations of this substance are toxic to organs and tissues, resulting in progressive, permanent damage.

Description

Gaucher disease belongs to a group of conditions called lipid storage diseases. Lipids are fatty substances used throughout the body. In lipid storage diseases, enzymes that would ordinarily break down lipids so that they can be appropriately used are absent. This results in the progressive accumulation of large quantities of these lipids.

In Gaucher disease, the specific type of lipid that accumulates is called a glucosylceramide. Deficient activity of an enzyme called beta-glucosidase results in glucosylceramide accumulation throughout the body and damage to normal tissues and organs.