Glycogen Storage disease

Question 1

Von Gierke Disease (Type 1)

Answer 1

Severe fasting hypoglycemia
Increase glycogen in liver
Increase blood lactate
Increase triglycerides
Increase uric acid
Hepatomegaly 

Enzyme: Glucose-6-phosphatase

AR

Treatment: Frequent oral glucose, avoid fructose and galactose

Question 2

Pompe disease (type II)

Answer 2

Cardiomegaly
Hypertrophic cardiomyopathy
Exercise intolerance
Systemic findings leading to early death

Enzyme: Lysosomal alpha1,4 glucosidase (acid maltase)

AR

Pompe trashes the PUMP
(heart, liver, muscle)

Question 3

Cori Disease (type III)

Answer 3

Milder form of Type 1
Normal blood lactate levels

Enzyme: Debranching enzyme (alpha 1, 6 glucosidase

AR
Gluconeogenesis is intact

Question 4

McArdle disease (type V)

Answer 4

Increase glycogen in muscle
Muscle cannot break it down
Painful muscle cramps
Myoglobinuria

RED URINE with strenous exercise (arrhythmia from electrolyte abnormalities)

Enzyme: Skeletal muscle glycogen phosphorylase (myophosphorylase)

AR
Blood glucose typically unaffected
McArdle is muscle
Treat with vitamin B6 (cofactor)