Gaucherbetegség
Gaucher disease, also known as Gaucher's disease, is a rare genetic disorder that affects the body's ability to break down and eliminate certain fats, called glycolipids. It is caused by a deficiency in the enzyme glucocerebrosidase, which is necessary for the breakdown of these fats. The disorder is inherited in an autosomal recessive pattern, meaning that a person must inherit the defective gene from both parents to develop the disease.
Gaucher disease can affect various parts of the body, including the spleen, liver, lungs, and bones. Symptoms
There are three main types of Gaucher disease: type 1, type 2, and type 3. Type 1
Treatment options for Gaucher disease include enzyme replacement therapy, substrate reduction therapy, and bone marrow transplantation.