Sphingolipid disorders

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Tay-Sachs
(Tay-SaXs)
- lacks heXosaminidase A
- build up of GM2
- Cherry-RED macula
Fabry
- lacks α-Galactosidase
- build up of Globosides
- only X-linked disorder; pain in extremeties with reddish-purple skin rashes
Goucher
- lacks glucocerebrosidase
- build up of Glucocerebroside
- Hepatosplenomegaly; "wrinkled paper inclusions"
Neimann-Pick
- lacks Sphyngomyelinase
- build up of Sphyngomyelin
- "Zebra bodies"; "Foamy" macrophages
"No man picks his nose with his sphinger"
Krabbes
- lack of B-galactosidase
- build up of Galactocerebroside
- muslce weakness; breakdown of myelin sheath

Author

113490

Card Set

Sphingolipid disorders

Description

Sphingolipid Metabolism Deficiency Syndromes

Updated

2011-10-31T23:15:46Z

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