Glycogen Storage Diseases

Question 1

Von Gierke (I)

Answer 1

Defective enzyme: glucose-6-phosphatase or transport system
Organ: liver and kidney
Glycogen?: increased amount, normal structure

Question 2

Pompe (II)

Answer 2

Defective enzyme: alpha 1,4 glucosidase (lysosomal)
Organ: all dem
Glycogen?: super increased amount, normal structure

Question 3

Cori (III)

Answer 3

Defective enzyme: alpha 1,6 glucosidase (debranching enzyme)
Organ: muscle and liver
Glycogen?: increased amount, shorter outer branches
Presentation: light hypoglycemia, hepatomegaly

Question 4

Andersen (IV)

Answer 4

Defective enzyme: branching enzyme
Organ: liver and spleen
Glycogen?: normal amount, very long outer branches
Presentation: hepatomegaly, splenomegaly, cirrhosis, death by age 5

Question 5

McArdle (V)

Answer 5

Defective enzyme: phosphorylase
Organ: muscle
Glycogen?: moderately increased amount, normal structure
Presentation: Exercise intolerance, muscle cramps, myoglobinuria

Question 6

Hers (VI)

Answer 6

Defective enzyme: phosphorylase
Organ: liver
Glycogen?: increased amount
Presentation: hepatomegaly, low blood glucose

Question 7

VII

Answer 7

Defective enzyme: phosphofructokinase
Organ: muscle
Glycogen?: increased amount, normal structure

Question 8

VIII

Answer 8

Defective enzyme: phosphorylase kinase
Organ: liver
Glycogen?: increased amount, normal structure

Question 9

0

Answer 9

Defective enzyme: glycogen synthase
Organ: muscle and liver
Glycogen?: none
Presentation: muscle cramps, rely of diet for glucose, must eat frequently