Glycogen Storage Diseases Flashcards
1
Q
Type 1
A
Von Gierke
2
Q
Von Gierke
A
Type 1
G6P
Nose bleed, short statue, gout
3
Q
Type 2
A
Pompe’s
4
Q
Pompe’s
A
Type 2
Acid maltase
Hypotonia, HF, enlarged tongue
5
Q
Type 3
A
Cori
Forbe
6
Q
Cori’s
A
Type 3
Debranching enzyme
Hypoglycemia, muscle weakness, cardiac involvement
7
Q
Type 5
A
McArdle
8
Q
McArdle’s
A
Type 5
Muscle phosphorylase
Muscle weakness, fatigue, muscle cramps