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Gaucher Disease

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Gaucher disease facts

  • Gaucher disease is an inherited (genetic) condition that is due to a deficiency in the enzyme glucocerebrosidase.
  • Gaucher disease leads to the accumulation of fatty substances in certain organs.
  • Signs and symptoms of Gaucher disease include
  • Signs and symptoms vary among people with Gaucher disease.
  • There are several types of Gaucher disease including type 1, 2, 3 Gaucher disease; perinatal lethal Gaucher disease, and cardiovascular Gaucher disease.
  • The most common type of Gaucher disease is type 1, and this type typically does not affect the nervous system.
  • Type 2 Gaucher disease and perinatal lethal Gaucher disease are rare and severe forms of the disease.
  • Gaucher disease is inherited in an autosomal recessive manner.
  • Gaucher disease is most common in people of Ashkenazi Jewish descent, affecting about 1 out of every 855 people. In the non-Jewish population, Gaucher disease affects 1 out of every 40,000 people.
  • Enzyme replacement therapy (ERT) is the main treatment for Gaucher disease.
  • Those with family members affected with Gaucher disease may want to consider genetic counseling and screening for the genetic mutation.
Medically Reviewed by a Doctor on 7/5/2016


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