Gaucher disease (pronounced goschee) is one of the so-called storage diseases. Due to the defect of a special enzyme fatty substances can not be broken down. The body stores it in organs and bones. With fatal consequences for those affected.
Gaucher cells and their consequences
Gaucher disease is an inherited fat storage disorder caused by the deficiency of the enzyme beta-glucocerebrosidase. This enzyme is responsible for the cleavage of glucocerebroside into glucose and ceramide.
If the enzyme is missing or is less active than normal, accumulation of fatty substances (glucocerebrosides) occurs in particular in the so-called macrophages, the phagocytes of the body. Enlarged macrophages with undigested glucocerebroside are called Gaucher cells. They are usually found in the spleen, liver and bone marrow.
The affected organs are enlarged and thus disturbed in their function. In the bones, the Gaucher cells displace the bone marrow. This makes them gradually unstable, it can lead to bone fractures. Gaucher cells can also be stored in other tissues, including the lymphatic system, the lungs, the skin, the eyes, the kidney and, very rarely, the nervous system.