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Gaucher's Disease Learning Center

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Welcome

Gaucher disease is a rare genetic disorder in which a person lacks an enzyme called glucocerebrosidase.Glucocerebrosidase deficiency; Glucosylceramidase deficiency.Gaucher disease affects an estimated 1 in 50,000 to 1 i...

Basic Info

Symptoms
Symptoms vary depending on the type of disease, but may include:Bone pain and fracturesCognitive impairmentEasy bruis...
Causes
Gaucher disease affects an estimated 1 in 50,000 to 1 in 100,000 people in the general population. Persons of Easter...
Tests
The doctor will perform a physical exam. The patient may have signs of liver and spleen swelling, bone changes, lung ...
Treatments
Enzyme replacement therapy is available. A bone marrow transplant may be needed in severe cases.
Risk Factors
  • Jewish population
  • Europeans
Prevention
Genetic counseling is recommended for prospective parents with a family history of Gaucher disease. Testing can...

Basic Info

Related Topics

Rare Disease
Genetic Disorders

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