Gaucher (pronounced "go-SHAY") disease is an inherited illness caused by a gene mutation. Normally, this gene is responsible for an enzyme called glucocerebrosidase that the body needs to break down a particular kind of fat called glucocerebroside. In people with Gaucher disease, the body is not able to properly produce this enzyme and the fat cannot be broken down. It then accumulates, mostly in the liver, spleen and bone marrow.

Other languages: French.

  • Gaucher Care Find information about gaucher disease for people living with it, their friends and families, and health care professionals.
  • Gaucher Disease Information for patients, relatives, doctors and researchers from an independent charity. Over two hundred pages for use by patients and doctors.
  • Gaucher Registry Longitudinal, observational program that tracks the health outcomes of routine clinical practice for patients with Gaucher disease.
  • Gaucher's Disease Information sheet compiled by NINDS, the National Institute of Neurological Disorders and Stroke.
  • University Regional Gaucher Treatment Center Provides clinical evaluations for the diagnosis and treatment of patients with this disease. Information about the disease as well as the facility.

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