What is Gaucher disease?

Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded. Normally, the body makes an enzyme called glucocerebrosidase that breaks down and recycles glucocerebroside - a normal part of the cell membrane. People who have Gaucher disease do not make enough glucocerbrosidase. This causes the specific lipid to build up in the liver, spleen, bone marrow and nervous system interfering with normal functioning.

There are three recognized Types of Gaucher disease and each has a wide range of symptoms. Type 1 is the most common, does not affect the nervous system and may appear early in life or adulthood. Many people with Type 1 Gaucher disease have findings that are so mild that they never have any problems from the disorder. Type 2 and 3 do affect the nervous system. Type 2 causes serious medical problems beginning in infancy, while Type 3 progresses more slowly than Type 2.There are also other more unusual forms that are hard to categorize within the three Types.

Gaucher disease is caused by changes (mutations) in a single gene called GBA. Mutations in the GBA gene cause very low levels of glucocerebrosidase. A person who has Gaucher disease inherits a mutated copy of the GBA gene from each of his/her parents.