Glycogen Storage Diseases

Question 1

Type I

Answer 1

Von Gierke

Question 2

Type II

Answer 2

Pompe

Question 3

Type III

Answer 3

Cori

Question 4

Type IV

Answer 4

Andersen

Question 5

Type V

Answer 5

McArdle

Question 6

Type VI

Answer 6

Her

Question 7

Type VII

Answer 7

Tarui

Question 8

Glycogen deposits in liver

Answer 8

Von Gierke

Question 9

Systemic, including cardiomegaly

Answer 9

Pompe

Question 10

Stunted growth, controllable

Answer 10

Cori

Question 11

Liver and heart failure, normal at birth, subsequent deterioration

Answer 11

Andersen

Question 12

Muscle cramps, pain and weakness, MILDEST

Answer 12

McArdle

Question 13

Glycogen deposits in liver, NO known treatment

Answer 13

Her

Question 14

Glycogen deposits in skeletal muscles, hemolysis of RBCs

Answer 14

Tarui

Question 15

Deficiency: Von Gierke

Answer 15

Glucose 6 phosphatase

Question 16

Deficiency: Pompe

Answer 16

Lysosomal alpha 1,4 glucosidase

Question 17

Deficiency: McArdle

Answer 17

Muscle glycogen phosphorylase

Question 18

Severe hypogly on fasting

Answer 18

Von Gierke

Question 19

Kidney and intestines affected

Answer 19

Von Gierke

Question 20

Dying as infants, to as long as 20 yrs

Answer 20

Pompe

Question 21

Deficiency: Her

Answer 21

Hepatic glycogen phosphorylase

Question 22

Deficiency: Andersen

Answer 22

Branching enzyme

Question 23

Deficiency: Cori

Answer 23

Debranching enzyme