Glycogen storage diseases

Question 1

Von Gierke disease type I

Answer 1

Autosomal recessive Deficient Glucose-6-phosphatase
Severe fasting hypoglycemia
Increased liver glycogen levels, increased blood lactate, increased triglycerides, increased uric acid.

Question 2

Pompe Disease

Answer 2

Autosomal recessive lack of lysosomal alpha 1,4 glucsidase.
Results in cardiomegaly, hypertrophic cardiomyopathy, exercise intolerance etce.

“Pompe’s trashes the heart”

Question 3

Cori disease

Answer 3

Missing debranching enzyme for glycogen (alpha-1,6-glucosidase.

Mild form of von gierkes.

Question 4

McArdle Disease

Answer 4

Deficient skeletal muscle glycogen phosphorylase.
Increased glycogen in muscle and muscle cannot break it down leading to paingul cramps and myoglobinuria.

Blood glucose levels are usually fine.