The flashcards below were created by user
Anonymous
on FreezingBlue Flashcards.
-
Gaucher’s disease
- Def of acid beta-glucosidase
- Ashkenazi Jews
- Anemia, bruising, bone pain/fractures
- Erlenmeyer flask deformity of femur, BM cells wrinkled paper appearance
-
Neimann-Pick
- Def of sphinomyelinase
- Fatal d/o of infancy – failture to thrive, progressive neurodegeneration
-
GM1 gangliosidosis
- Def beta-galactosidase
- presents at birth, bone abnormalities (thick skull), hepatosplenomegaly
-
GM2 gangliosidosis (Tay Sach’s)
- Def hexosaminidase
- Cherry red spot
-
Farber disease
- Def ceramidase
- Joint swelling
|
|