glycogen storage disease

Question 1

how many

• all lead to what
• how many covered here
• inheritances

Answer 1

12

• glycogen accumulation
• 4 (I, II, III, V)
• all AR

Question 2

what are the 4 glycogen storage dz’s

Answer 2

Very Poor Carbohydrate Metabolism
Von Gierke Dz (I)
Pompe Dz (II)
Cori Dz (III)
McArdle Dz (V)

Question 3

Von Gierke Dz (Type I)

• def enzyme
• findings
• random

Answer 3

• Glucose 6-Phosphatase
• severe fasting hypoglycemia; increased blood lactate; glycogen accumulation in liver –> hepatomegaly
• Tx: frequent oral glucose/cornstarch; avoid fructose and galactose

Question 4

Pompe Dz (Type II)

• def enzyme
• findings
• random

Answer 4

• Lysosomal alpha-1,4-galactosidase
• cardiomyopathy and systemic findings; early death
• Pompe trashes the Pump
  (heart, liver, muscles)

Question 5

Cori Dz (Type III)

• def enzyme
• findings
• random

Answer 5

• alpha-1,6-glucosidase (debranching)
• milder form of type I … has normal lactate levels b/c you can still get 3/4 glucoses off of the branch
• gluconeogensis still in tact

Question 6

McArdle Dz (Type V)

• def enzyme
• findings
• random

Answer 6

• skeletal muscle glycogen phosphorylase (myophosphorylase)
• glycogen buildup in muscles –> cramps, myoglobinuria with exercise, arrhythmia from electrolyte imbalance
• McArdle = Muscle

Question 7

what’s the glycogen storage d/o affecting muscle

Answer 7

McArdle