Storage Diseases Flashcards
1
Q
GM1 gangliosidosis
A
B-galactosidase
Sheep and Schipperke: also alpha neuraminidase
2
Q
GM2 gangliosidosis
A
Hexominidase
3
Q
Niemann Pick Type A or B
A
Sphingomyelinase
4
Q
Globoid Cell Leukodystrophy
A
Galactocerebrosidosis
5
Q
Niemman Pick Type C
A
NPC1 or NPC2
6
Q
MPS Type 1
A
a-L-iduronidase
7
Q
MPS Type 2
A
iduronate-2-sulfatase
8
Q
MPS Type 3
A
N-acteylglucosamine-6-sulfatase (NAGLU-6S)
9
Q
MPS Type 6
A
arylsulfatase B
10
Q
MPS Typr 7
A
B-glucuronidase
11
Q
Glycogenosis Type 2
A
a-1,4-glucosidase
12
Q
Mucolipidosis Type 2
A
N-acteylglucosamine-1,-phosphotransferase (NAGLU-1PT)
13
Q
Glycogenosis Type 1a
A
glucose-6-phosphatase
14
Q
Glycogenosis Type 3
A
amylo-1,6-glucosidase
15
Q
Glycogenosis Type 4
A
GBE1 glycogen branching enzyme
