Glycogen storage diseases

Question 1

Severe fasting hypoglycemia 
Increase glycogen in liver (can't break down glycogen)
Increase blood lactate
Increase triglycerides
Increase uric acid (Gout)
Hepatomegaly

Answer 1

Von Gierke Disease (type 1)

Question 2

Deficient enzyme in Von Gierke Disease (type 1)

Answer 2

Glucose-6-phosphatase

Question 3

Treatment of Von Gierke Disease (type 1)

Answer 3

Frequent oral glucose/cornstarch

Avoidance of fructose and galactose

Question 4

Impaired gluconeogenesis and glycogenolysis

Answer 4

Von Gierke Disease (type 1)

Question 5

Cardiomegaly
HF
Severe muscle weakness
Shortened life expectancy
Affects heart, liver, and muscle

Answer 5

Pompe Disease (type II) - Infantile form

Question 6

Deficient enzyme in Pompe Disease (type II)

Answer 6

Lysosomal alpha-1,4-glucosidase with alpha-1,6-glucosidase activity

Question 7

Gradual onset of skeletal muscle weakness
Diaphragm weakness
Respiratory Failure

Answer 7

Pompe Disease (type II) - Adult form

Question 8

Milder form of Von Gierke (type 1) with normal blood lactate levels
Accumulation of limit dextrin
Hepatomegaly
Fasting hypoglycemia
Delayed growth

Answer 8

Cori Disease (type 3)

Question 9

Deficient enzyme in Cori Disease (type 3)

Answer 9

alpha-1,6-glucosidase (debranching enzyme)

Question 10

Increases glycogen in muscle, but muscle cannot break it down
Affects muscles

Answer 10

McArdle Disease (type V)

Question 11

Painful muscle cramps
Myoglobinuria with strenuous excercise
Arrythmia from electrolyte abnormalities

Answer 11

McArdle Disease (type V)

Question 12

Deficient enzyme in McArdle Disease (type V)

Answer 12

Glycogen phosphorylase