About Gaucher

What is Gaucher disease?

Gaucher disease is a rare disease that affects less than 10,000 people worldwide. In very simple terms, Gaucher (pronounced go-shay) disease is an inherited enzyme deficiency. This enzyme deficiency leads to a build up of a fatty substance in certain cells within the body, and accumulation of these fat-laden cells in certain organs and bones leads to a wide variety of symptoms.

Gaucher cells

Our bodies contain thousands of active substances called enzymes. In healthy people, the enzyme glucocerebrosidase (pronounced gloo-ko-ser-e-bro-sy-daze) helps the body to break down a certain type of fat molecule (glucocerebroside). People with Gaucher disease do not have enough of this enzyme. As a result, cells fill up with the undigested fat. These cells are referred to as Gaucher cells.

Gaucher cells build up in certain organs and bones. It can cause a wide variety of symptoms. Accumulation of Gaucher cells may cause spleen and liver enlargement, anaemia, and a number of other signs and symptoms. In rare cases, the brain and nervous system are affected. To learn more about how Gaucher disease may affect the body, see the Signs and Symptoms.

Disease history

Gaucher disease is named after the French physician Phillippe Charles Ernest Gaucher (left), who first described the disease in 1882 in a patient whose liver and spleen were enlarged. In 1924, a German physician isolated a fatty compound from the spleens of individuals with Gaucher disease. Ten years later, another French physician identified this compound as glucocerebroside, a component found in the walls of red and white blood cells.

In 1965, Dr. Roscoe O. Brady and his co-workers at the National Institutes of Health demonstrated that the accumulation of glucocerebroside results from a deficiency of the enzyme glucocerebrosidase. Dr. Brady’s research provided the basis for the development of the only treatment specifically designed to target these cells. This treatment, called Enzyme Replacement Therapy (ERT), reduces most of the symptoms of Type 1 Gaucher disease.

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