Sphingolipid disorders

Card Set Information

Author:
bhugo85
ID:
113490
Filename:
Sphingolipid disorders
Updated:
2011-10-31 19:15:46
Tags:
sphingolipid disorders
Folders:

Description:
Sphingolipid Metabolism Deficiency Syndromes
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  1. Tay-Sachs
    (Tay-SaXs)
    • lacks heXosaminidase A
    • build up of GM2
    • Cherry-RED macula
  2. Fabry
    • lacks α-Galactosidase
    • build up of Globosides
    • only X-linked disorder; pain in extremeties with reddish-purple skin rashes
  3. Goucher
    • lacks glucocerebrosidase
    • build up of Glucocerebroside
    • Hepatosplenomegaly; "wrinkled paper inclusions"
  4. Neimann-Pick
    • lacks Sphyngomyelinase
    • build up of Sphyngomyelin
    • "Zebra bodies"; "Foamy" macrophages

    "No man picks his nose with his sphinger"
  5. Krabbes
    • lack of B-galactosidase
    • build up of Galactocerebroside
    • muslce weakness; breakdown of myelin sheath

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