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Sphingolipid disorders
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Tay-Sachs
(Tay-Sa
X
s)
lacks
he
X
osaminidase 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
bhugo85
ID
113490
Card Set
Sphingolipid disorders
Description
Sphingolipid Metabolism Deficiency Syndromes
Updated
10/31/2011, 11:15:46 PM
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