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Gaucher’s Syndrome

Gaucher’s Syndrome. Also known as Glucocerebrosidase deficiency. By Sarah Moudy. Most Likely Candidates a nd How Common?. This disease (type 1) is most common in Ashkenazi Jewish heritage. These candidates have a 1 in 500 to 1,000  chance of receiving the disease.

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Gaucher’s Syndrome

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  1. Gaucher’s Syndrome Also known as Glucocerebrosidase deficiency By Sarah Moudy

  2. Most Likely Candidates and How Common? • This disease (type 1) is most common in Ashkenazi Jewish heritage. These candidates have a 1 in 500 to 1,000 chance of receiving the disease. • Throughout the rest of the general population, everyone has a 1 in 50,000 to 100,000 chance of receiving the disease. So it is not uncommon.

  3. Symptoms • Type 1: • Enlarged spleen and liver • Anemia (low blood cell count) • Easy bruising • Lung disease • Bone fractures, pain, and arthritis • Perinatallethal form (often fatal): • Extensive swelling in infants • Skin abnormalities • Distinctive facial features • Neurological problems • Types 2 and 3: • (Same as type 1) + • Abnormal eye movements • Seizures • Brain damage • Cardiovascular Type: • Heart valves harden • Eye abnormalities • Bone disease • Enlargement of spleen

  4. Inheritance Pattern • Gauchers Syndrome is autosomal recessive, and is found on the GBA gene (chromosome 1) caused by a mutation. • A child inherits this disease by both the mother and father carriers.

  5. Tests and Treatments • Blood tests are run • Testing of bone marrow • Biopsy of the spleen • MRI • CT scan • X-ray of the skeleton • Can be tested at any age • Bone marrow transplant (in severe cases) • Enzyme replacement therapy

  6. Support Groups • The National Gaucher Foundation http://www.gaucherdisease.org/ • Children’s Gauchers Disease Research Fund www.childrensgaucher.org

  7. Interesting Facts • Discovered in 1882 by a French doctor named Philippe Gaucher • First treatment approved by FDA in 1995 • Most victims will appear to have a big belly

  8. Works Cited • http://ghr.nlm.nih.gov/condition/gaucher-disease • http://health.nytimes.com/health/guides/disease/gaucher-disease/overview.html • http://www.absoluteastronomy.com/topics/Gaucher's_disease

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