Enzyme or protein defect
Glucocerebrosidase
Accumulates or becomes deficient
Glucocerebroside
Key features
Hepatosplenomegaly, pancytopenia, bone crises, Gaucher (crumpled-tissue-paper) cells
Management
Enzyme replacement (imiglucerase); substrate reduction
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
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