Glycogen storage diseases Flashcards
1
Q
What are the four glycogen storage diseases?
A
Very Poor Carbohydrate Metabolism
V- Von Gierke
P- Pompe disease
C- Cori disease
M- McArdle disease
2
Q
Von Gierke protein deficiency
A
Glucose-6-phosphatase
3
Q
Pompe protein deficiency
A
alpha- 1,4- glucosidase
4
Q
Cori protein deficiency
A
alpha-1,6-glucosidase (debranching enzyme but not MSUD)
5
Q
McArdle protein deficiency
A
Myophosphorylase (skeletal muscle glycogen phosphorylase)
6
Q
McArdle’s presentation
A
Muscle cramps and Myoglobinuria with exercise
