Storage Diseases

Question 1

GM1 gangliosidosis

Answer 1

B-galactosidase

Sheep and Schipperke: also alpha neuraminidase

Question 2

GM2 gangliosidosis

Answer 2

Hexominidase

Question 3

Niemann Pick Type A or B

Answer 3

Sphingomyelinase

Question 4

Globoid Cell Leukodystrophy

Answer 4

Galactocerebrosidosis

Question 5

Niemman Pick Type C

Answer 5

NPC1 or NPC2

Question 6

MPS Type 1

Answer 6

a-L-iduronidase

Question 7

MPS Type 2

Answer 7

iduronate-2-sulfatase

Question 8

MPS Type 3

Answer 8

N-acteylglucosamine-6-sulfatase (NAGLU-6S)

Question 9

MPS Type 6

Answer 9

arylsulfatase B

Question 10

MPS Typr 7

Answer 10

B-glucuronidase

Question 11

Glycogenosis Type 2

Answer 11

a-1,4-glucosidase

Question 12

Mucolipidosis Type 2

Answer 12

N-acteylglucosamine-1,-phosphotransferase (NAGLU-1PT)

Question 13

Glycogenosis Type 1a

Answer 13

glucose-6-phosphatase

Question 14

Glycogenosis Type 3

Answer 14

amylo-1,6-glucosidase

Question 15

Glycogenosis Type 4

Answer 15

GBE1 glycogen branching enzyme

Question 16

Glycogenosis Type 5

Answer 16

Myophosphorylase

Question 17

Glycogenosis Type 7

Answer 17

Phosphofructokinase

Question 18

Lafora Disease

Answer 18

Epm2b

Question 19

Acquired a-mannosidosis

Answer 19

Swainsonine

Oxytropus, Australagus, Swainsonia containing Undifilum oxytropis or Embellsia fungi