What is Gaucher disease?

Gaucher disease is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and sometimes in the brain. There are three types of Gaucher disease. The first category, called type 1, is by far the most common. Patients in this group usually bruise easily and experience fatigue due to anemia and low blood platelets. They also have an enlarged liver and spleen, skeletal disorders, and, in some instances, lung and kidney impairment. There are no signs of brain involvement. Symptoms can appear at any age. In type 2 Gaucher disease, liver and spleen enlargement are apparent by three months of age. Patients have extensive and progressive brain damage, and usually die by two years of age. In the third category, called type 3, liver and spleen enlargement is variable, and signs of brain involvement such as seizures gradually become apparent. All Gaucher patients exhibit the deficiency of an enzyme called glucocerebrosidase that is involved in the breakdown and recycling of glucocerebroside. The buildup of this fatty material within cells prevents the cells and organs from functioning properly. Gaucher disease is one of several lipid storage diseases.

This answer is based on source information from the National Institute of Neurological Disorders and Stroke .

Gaucher disease (pronounced go-shay) is a condition where the body is missing the enzyme glucocerebrosidase (GBA). GBA breaks down a waste material called glucocerebroside. In Gaucher disease that waste will build up in the cells and can’t be recycled. As the waste material builds up, the cells swell. These swollen cells are called Gaucher cells.

The disease is named after the doctor who discovered it, Philippe Gaucher.

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