Gaucher's Disease Learning Center

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Welcome

Gaucher disease is an inherited deficiency of the enzyme glucosidase, which results in the buildup of a toxic substance (glucosylceramide) in different parts of the body, such as the spleen, liver, and bones.

Basic Info

Symptoms
Symptoms vary depending on the type of disease, but may include: Bone pain and fractures; Cognitive impairment; Easy ...
Causes
Gaucher disease affects an estimated 1 in 50,000 to 1 in 100,000 people in the general population. Persons of Eastern...
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.
Alternative Therapies
For more information contact: Childrens Gauchers Disease Research Fund: www.childrensgaucher.org; National Gaucher Fo...
Risk Factors
  • Europeans
  • Jewish population
Complications
Seizures; Anemia; Thrombocytopenia; Bone problems.
Prevention
Genetic counseling is recommended for prospective parents with a family history of Gaucher disease. Testing can deter...

Basic Info

Related Topics

Rare Disease
Genetic Disorders

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