Type 1 is found more frequently among individuals who are of Ashkenazi Jewish ancestry. Gaucher disease occurs in about 1 in 50,000 to 1 in 100,000 individuals in the general population. A person who has Gaucher disease inherits a mutated copy of the GBAgene from each of his/her parents. Mutations in the GBA gene cause very low levels of glucocerebrosidase. Gaucher disease is caused by changes (mutations) in a single gene called GBA. There are also other more unusual forms that are hard to categorize within the three Types. Type 2 causes serious medical problems beginning in infancy, while Type 3 progresses more slowly than Type 2. Type 2 and 3 do affect the nervous system. Many people with Type 1 Gaucher disease have findings that are so mild that they never have any problems from the disorder. Type 1 is the most common, does not affect the nervous system and may appear early in life or adulthood. There are three recognized Types of Gaucher disease and each has a wide range of symptoms. This causes the specific lipid to build up in the liver, spleen, bone marrow and nervous system interfering with normal functioning.
People who have Gaucher disease do not make enough glucocerbrosidase. Normally, the body makes an enzyme called glucocerebrosidase that breaks down and recycles glucocerebroside - a normal part of the cell membrane. Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.