Glycogen storage diseases Flashcards
1
Q
Von Gierke deficiency
A
Glucose 6 phosphatase
2
Q
Von Gierke findings
A
Fasting hypoglycemia
Increased hepatic glycogen, blood lactate, triglycerides, uric acid, hepatomegaly
3
Q
Pompe deficiency
A
Lysosomal a-1,4-glucosidase
acid maltase
4
Q
Pompe findings
A
Hypertrophic cardiomyopathy
Exercise intolerance
5
Q
Cori deficiency
A
a-1,6 glucosidase
Debranching enzyme
6
Q
Cori findings
A
Milder type I
Intact gluconeogenesis
Normal blood lactate
7
Q
McArdle deficiency
A
Skeletal muscle glycogen phosphorylase
8
Q
McArdle findings
A
Muscle cramps and myoglobinuria with exercise
Unaffected blood glucose
