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BiochemSD

USMLE Biochem

QuestionAnswer
mental retardation, can't breathe, clouded cornea, hepatosplenomegaly Hurler Syndrome - a-L iduronase - AR
mental retardation, difficulty breathing, aggressive behavior, slight enlargment of liver HUNTER - iduronate sulfaTase - XR
peripheral neuropathy of hands/ feet, angiokeratomas, cardio/ renal dz FABRY - a-galactosidase A; inc ceramide trihexoside
hepatosplenomegaly, aseptic necrosis of femur bone crisis, see on histo? macrophages that look like crumpled tissue paper - Gaucher - no glucocerebrosidase
Created by: 100000171140931
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