Paper I
Question
The genetic defect in Gaucher disease is _______________________
Answer
Deficiency of the lysosomal enzyme glucocerebrosidase (β-glucosidase), leading to accumulation of glucocerebroside within macrophages of the reticuloendothelial system (spleen, liver, bone marrow), producing characteristic “Gaucher cells” (macrophages with a crumpled tissue-paper-like cytoplasm).