U01.18.029 Gaucher disease

Study this flashcard to understand the enzyme defect and clinical manifestations of Gaucher Disease. Identify how glucocerebrosidase deficiency leads to accumulation of glucocerebroside in macrophages, causing hepatosplenomegaly, pancytopenia, and bone lesions for USMLE Step 1.

Question categories All Questions, U01.18 Review: Classic presentations, USMLE Step 1 Review Series

Question tags autosomal recessive, cherry-red macula, enzyme deficiency, Genetic disorders, GM2 gangliosidosis, hepatosplenomegaly, hexosaminidase A deficiency, Inborn Errors of Metabolism, lipid storage disorders, lysosomal enzyme defect, Lysosomal Storage Disorders, macrophage storage disease

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