Biology Reference
In-Depth Information
TABLE 7.1
Some Better Known Lysosomal Storage Diseases (LSDs) with the Missing
Enzyme and Accumulated Sphingolipid.
Accumulating
sphingolipid
Disease
Missing enzyme
Fabrey
a
-Galactosidase A
Gb3
Gauchers
b
-Glucosidase
Glucoceramide
GM
1
Gangliosidoses
b
-Galactosidase
GM
1
Hunter
Iduronate-2-sulfatase
Mucopolysaccharides
Krabbe
Galactosylceramidase
Galactoceramide
Niemann-Pick
Sphingomyelinase
Sphingomyelin
Pompe
a
-Glucosidase A
Gb3
Sandhoff
Hexoseaminidase A & B
GM
2
Tay-Sachs
Hexoseaminidase A
GM
2
N-glycosidic linkage
CH
2
OH
protein
Ο
H
N
NH
H
asparagine
C
C
CH
H
C
Ο
Ο
Ο
protein
NH
C
CH
3
N-acetylglucosamine
O-glycosidic linkage
protein
CH
2
OH
NH
Ο
H
serine
C
O
CH
H
C
protein
Ο
Ο
NH
C
CH
3
N-acetylgalactosamine
FIGURE 7.6
Attachment of sugars to proteins occurs at either an asparagine (the sugar is N-linked) or to serine,
threonine, hydroxylysine, or hydroxyproline (the sugar is O-linked).
