click below
click below
Normal Size Small Size show me how
BiochemSD
USMLE Biochem
Question | Answer |
---|---|
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 |