Lysosomal Storage Diseases.txt

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Author:
Anonymous
ID:
86828
Filename:
Lysosomal Storage Diseases.txt
Updated:
2011-05-19 21:20:07
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  1. 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
  2. Neimann-Pick
    • Def of sphinomyelinase
    • Fatal d/o of infancy – failture to thrive, progressive neurodegeneration
  3. GM1 gangliosidosis
    • Def beta-galactosidase
    • presents at birth, bone abnormalities (thick skull), hepatosplenomegaly
  4. GM2 gangliosidosis (Tay Sach’s)
    • Def hexosaminidase
    • Cherry red spot
  5. Farber disease
    • Def ceramidase
    • Joint swelling

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