Glycogen Storage Diseases and Collagen

Question 1

Give the Name and Enzyme for Type 1 Glycogen Storage Disease

Answer 1

Vone Gierke; Glucose 6-phosphate

Question 2

Give the Name and Enzyme for Type II Glycogen Storage Disease

Answer 2

Pompe; ACID maltase (a-1,4-glucosidase)

Question 3

Cherub face

Answer 3

Vone Gierke (Type 1)

Question 4

Cardiomegaly

Answer 4

Type II, Pompe

“PUMP”

Question 5

Debranching enzyme is found in what glycogen storage disease?

Answer 5

Type III

Question 6

Other name for Type III GSD

Answer 6

Cori

Question 7

Branching enzyme

Answer 7

Type IV (Andersen)

Question 8

Myophosphorylase

Answer 8

Type V (McArdle)

Question 9

Hepatic Glycogen Phosphorylase

Answer 9

Type VI (Hers)

Question 10

Type VII name and and enzyme

Answer 10

TARUI; Phosphofrucotkinase (rate limiting enyme)

Question 11

Type VI GSD is associated with what infectious diease?

Answer 11

Leshmania

Question 12

Type VIII enzyme

Answer 12

Phosphorylase kinase

Question 13

Type 0

Answer 13

Glycogen synthase

Question 14

Where is collagen derived?

Answer 14

procollagen

Question 15

Substance responsible for the cross linking of collagen fibers

Answer 15

Vitamin C

Question 16

MC type of collagen

Answer 16

collagen Type 1

Question 17

Defect in Collagen Type 1 results in?

Answer 17

Osteogenesis Imperfecta

Question 18

Type I collagen includes

Answer 18

tendon

fascia

Question 19

Type II collagen includes:

Answer 19

cartilage

Vitreous humor

Question 20

Type III collagen includes:

Answer 20

Reticular fiber
Granulation tissue
Healing wound
Blood vessels

Question 21

Defect in Type III collagen

Answer 21

Ehlers Danlos

Question 22

Type IV collagen

Answer 22

Basement Membrane

Question 23

Defect in Type IV

Answer 23

Alport’s Syndrome