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Gaucher disease, type 1 |
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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 How to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit webmaster's page for free fun content. |
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