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 columnMcGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.