Gaucher disease, type 1

Gaucher disease, type 1

An AR noncerebral juvenile form of GD most common in Ashkenazi Jews caused by a defect in glucocerebrosidase, leading to glucocerebroside accumulation in the spleen, liver, lymph nodes Clinical Splenomegaly, anemia, thrombocytopenia, ↑ skin pigmentation, yellow fatty spot on white of eye–pinguecula, severe bone involvement can lead to pain and collapse of hips, shoulders, vertebral column
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The most common form of Gaucher disease, Type 1, affects one in 100,000 of the general population although it is estimated not all those who have Gaucher disease will show symptoms.
The symptoms"

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