Gaucher Disease

Topics: Mutation, Red blood cell, Gaucher's disease Pages: 2 (411 words) Published: March 11, 2013
Gaucher Disease
By: Samiel Torres
Period: 2

Facts and Theories
1. Gaucher disease is an inherited disorder that affects a lot of the body organs and tissues. 2. There are three types of gaucher disease.
3. Type 1 of gaucher disease is the most common form of this condition. 4. It is also called non neuronopathic gaucher disease because it means the central system is not affected. 5. Type 2 of gaucher disease is usually causes life threatening medical problems while you are an infant. 6. Type 3 of gaucher disease also affects the nervous system but it tends to progress slowly than Type 2. 7. The most severe type of gaucher disease is called the perinatal lethal form. 8. Another form of gaucher disease is also known as the cardiovascular type because it over all affects the heart. 9. The disease was named after French doctor Philippe Gaucher in 1882. Facts and Theories

Symptoms of the disorder

1. The symptoms of all types of gaucher disease are an enlargement of the liver and spleen. 2. Also, a low number of red blood cells, easy bruising, lung disease and can cause bone abnormalities. 3. These symptoms above can cause abnormal eye movements, seizures, and brain damage. 4. Gaucher disease of perinatal lethal form causes extensive eye swelling, dry, scaly skin or other skin abnormalities. Symptoms of the disorder

How is it inherited?
1. It is inherited in an autosomal recessive pattern which means both copies of the gene each have a cell that has mutations. 2. The parent of the child that has the condition carries one copy of the mutated gene, but don’t show any signs and symptoms of the condition. 3. The chromosome 1 is affected.

4. A mutation in the GBA (glucosidase beta acid) gene causes gaucher disease.

How is it inherited?

1. Type 1 occurs in people of Ashkenazi with Jewish heritage. 2. Gaucher disease occurs both in males and females.
3. Type 2 has no...
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