Lysosomal Storage Diseases: Mucopolysaccharidoses Flashcards
1
Q
Enzyme deficiency:
alpha-L-iduronidase
A
I-H
I-S
IH/S
2
Q
Enzyme deficiency:
Heparan sulfatase
A
IIIA
3
Q
Enzyme deficiency:
Iduronate sulfatase
A
II
4
Q
Enzyme deficiency:
N-acetylglucosaminidase
A
IIIB
5
Q
Enzyme deficiency:
N-acetylglucosamine-6-sulfatase
A
IIID
6
Q
Enzyme deficiency:
N-acetylgalactosamine-6-sulfatase
A
IVA
7
Q
Enzyme deficiency:
Hyaluronidase
A
IX
7
Q
Enzyme deficiency:
Glucosamine-N-acetyltransferase
A
IIIC
8
Q
Enzyme deficiency:
Beta-galactosidase
A
IVB
8
Q
Enzyme deficiency:
N-acetylgalactosamine-4-sulfatase
A
VI
9
Q
Enzyme deficiency:
Beta-glucuronidase
A
VII
10
Q
I-H
A
Hurler
11
Q
I-S
A
Scheie
12
Q
IH/S
A
Hurler-Scheie
13
Q
II
A
Hunter
14
Q
IIIB
A
San Filippo
14
Q
IIIA
A
San Filippo
15
Q
IIIC
A
San Filippo
16
Q
IIID
A
San Filippo
17
Q
VI
A
Maroteaux-Lamy
17
Q
IVA
A
Morquio
18
Q
IVB
A
Morquio
19
Q
VII
A
Sly
20
Q
IX
A
Natowicks
