glycogen storage diseases

Question 1

Von Gierke’s disease (type I) findings

Answer 1

severe fasting hypoglycemia, increased glycogen in liver, increased blood lactate, hepatomegaly

Question 2

Von-Gierke’s deficient enzyme

Answer 2

glucose-6-phosphatase

Question 3

Pompe’s disease (type II) findings

Answer 3

cardiomegaly, hepatosplenomegaly, muscle weakness

Question 4

Pompe’s disease deficienct enzyme

Answer 4

lysosomal alpha-1,4-glucosidase (acid maltase)

Question 5

Cori’s disease (type III) findings

Answer 5

milder form of type I with normal blood lactate levels

Question 6

Cori’s disease deficienct enzyme

Answer 6

debranching enzyme (alpha-1,6-glucosidase)
dextrin-like material accumulates

Question 7

Andersen disease (type IV) findings

Answer 7

hypotonia, cirrhosis, usually death by 2

Question 8

Andersen disease deficienc enzyme

Answer 8

branching enzyme

Question 9

McArdle’s disease (type V) findings

Answer 9

increased glycogen in muscle, painful muscle cramps, myoglobinuria with strenuous exercise, second wind phenomenon

Question 10

McArdle’s disease deficienct enzyme

Answer 10

skeletal muscle glycogen phosphorylase

myophosphorylase deficiency