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Gaucher Disease - Coggle Diagram
Gaucher Disease
Symptoms
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Depending on the type of Gaucher disease the heart, lungs, and nervous may also be affected
Treatment
Enzyme replacement therapy helps to stop progression and often reverse many of the symptoms of Gaucher disease,
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What is it?
Gaucher Disease is an autosomal recessive inherited disorder of metabolism where glucocerebrosidase cannot be degraded
There is then a build up of lipids in the liver, spleen, bone marrow, and nervous system
It occurs in 1 in 50, 000 to 1 in 100,000 individuals worldwide
Types
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Type 3: does affect the nervous system, but progresses more slowly than type 2