• Overview
• Inheritance
• Symptoms
  • The Liver and Spleen
  • The Blood
  • The Bones
• Testing
• Treatment
• Resources

Gaucher disease (pronounced "go-shay") type 1 is the most common lysosomal disease. It affects up to 1 in 600 people of Ashkenazi Jewish descent and about 1 in 40,000 people of other ethnicities. Gaucher disease is caused by an absence or shortage of the enzyme glucocerebrosidase ("gloo-ko-sir-e-bro-sy-daze"), which normally breaks down the chemical glucocerebroside into glucose (a sugar) and ceramide (a fat). This chemical breakdown happens in the lysosomes of macrophages, a type of white blood cell. If the glucocerebrosidase enzyme is absent or in short supply, the substance glucocerebroside cannot be broken down. Instead, glucocerebroside builds up in the lysosomes of the macrophages in the liver, spleen, bones, and other organs of the body. These enlarged macrophages are sometimes called Gaucher cells.

The build-up of glucocerebroside results in Gaucher disease. Symptoms include bleeding problems, enlargement of the liver and spleen, bone abnormalities, and (occasionally) lung problems. The symptoms of Gaucher disease vary from person to person, may be mild or severe, and can appear at any time from infancy to old age. Lifespan in people with Gaucher disease is generally normal.

Common Symptoms: Frequent nosebleeds Easy bleeding and/or bruising Tiredness Bone pain Frequent bone fractures Enlarged spleen and/or liver