Gaucher disease is a rare disease. It causes the abnormal storage of fatty substances. These fatty substances build up in the bones, liver, lungs, spleen and occasionally the brain. There are three types of Gaucher disease:

  • Type I—most common, found widely in people of Ashkenazi Jewish descent
  • Type II—rare, rapidly progressive form
  • Type III—rare, most cases found in Japan and Scandinavia

Gaucher disease is a genetic disease. A faulty gene limits the amount of an enzyme called glucocerebrosidase. The enzyme normally breaks down a fat called glucocerebroside. There is not enough of the enzyme to break down all of this specific fat. As a result, it builds up in the spleen, liver, lungs, bones, and brain.