Glycogen Storage Disorders

Question 1

Type 0

Answer 1

Rare - early death
Glycogen synthase
Liver or muscle
Hypoglycemia, hyperketonemia

Question 1

Type 1 - Von Gierke

Answer 1

Glucose-6-phosphatase
Liver, kidney, SI
Severe hyperglycemia, lactic acidosis enlarged liver

Question 2

Type 2 - Pompe

Answer 2

Lysosomal alpha-glucosidase/acid maltase
Liver, muscle, heart
Heart failure, cardiomyopathy

Question 3

Type 3 - Cori/Forbes

Answer 3

Glycogen debranching enzyme/4:4 transferase
Liver, muscle
Milder Von Gierkes, milder hypoglycemia
CD

Question 4

Type 4 - Andersen

Answer 4

Glycogen branching enzyme/4:6 transferase
Heart, liver
Hepatomegaly and cirrhosis, early death
AB

Question 5

Type 5 - McArdle

Answer 5

Muscle glycogen phosphorylase
Muscle
Muscle cramps and myglobinuria

Question 6

Type 6 - Hers Disease

Answer 6

Hepatic glycogen phosphorylase
Liver, hepatomegaly, mild hypoglycemia

Question 7

Type 7 - Tauri

Answer 7

Phosphofructokinase
Muscle, RBC
Exercise induced muscle gramps, developmental delay, hemolytic anemia