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Exam questionKROK 1Medicine · 2020

A patient is diagnosed with glucocerebroside lipidosis (Gaucher’s disease) that manifests as splenomegaly, liver enlargement, affected bone tissue, and neuropathies. What enzyme of complex lipid catabolism is deficient, causing this disease?

Answer options

  1. Hexosaminidase
  2. Glucocerebrosidase
  3. Hyaluronidase
  4. β-galactosidase
  5. Sphingomyelinase
Correct answer

Glucocerebrosidase

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