Gaucher's disease is a hereditary disease in which there is a decrease in the activity of an enzyme in the body called glucocerebrosidase. This enzyme is responsible for breaking down the fatty acid glucosylceramide. Decrease in enzyme activity leads to the accumulation of glucosylceramide inside cells in the body (especially white blood cells, most commonly macrophages). As a result, cells grow dramatically, becoming giant cells called Gaucher cells. These cells accumulate in the spleen, liver, bone marrow and bones, causing them to grow and interfering in their functioning. In 1995, with the National Health Insurance Law going into effect, Gaucher's disease became recognized as one of the serious illnesses whose treatment is covered by the government.

Medications and the Healthcare System


  • Children who require transfusion of blood, blood products, blood substitutes, antibiotics or other infusions as part of extended treatment, at least once a month are classified as requiring special medical treatment. Parents of a child with Gaucher's disease who receives medical treatment that fits this description may file a claim to receive a disabled child benefit. For more information, see: Disabled Child Benefit and Related Benefits.
  • Gaucher patients with severe problems with their legs due to the illness, may be entitled to a Mobility Benefit.




Additional Information

Aid organizations

Government agencies

Additional publications