Glycogen Storage Disorders Flashcards
1
Q
Deficiency of glucose-6-phophatase
A
Von-Geirk disease
2
Q
Sx of von-geirk disease
A
- Severe fasting hypoglycemia
- Hepatomegaly due to increased glycogen in the liver
- Increased blood lactate
3
Q
Cardiomegaly
A
Pompe disease
4
Q
Deficiency in Pompe disease
A
Lysosomal alpha-1,4-glucosidase (acid maltase)
5
Q
Inability to cleave glycogen at alpha-1,6-bonds
A
Cori disease
6
Q
Deficiency in Cori disease
A
alpha-1,6-glucosidase
7
Q
Painful muscle cramps and myoglobinuria with exercise
A
McArdle disease
8
Q
Deficiency in McArdle disease
A
muscle glycogen phosphorylase
