Glycogen Storage Disorders Flashcards
1
Q
Von Gierke disease defective enzyme
A
Glucose 6 Phosphate
2
Q
Pompe disease defective enzyme
A
Acid Maltase (alpha 1,4 glucosidase)
3
Q
Cori disease defective enzyme
A
De branching Enzymes
4
Q
Andersen disease defective enzyme
A
Branching Enzyme
5
Q
McArdle disease defective enzyme
A
Myophosphorylase
6
Q
Key features of Cori Disease
A
Hepatic Fibrosis
Hypotonia
Hypoglycaemia
Hepatomegaly
7
Q
Key features of Pompe Disease
A
Cardiomegaly
Hypotonia
8
Q
Key features of Von Gierke Disease
A
Hypoglycaemia
Lactic Acidosis
Hyperlipidemia
9
Q
Key Features of Pompe Disease
A
Hypotonia
Hepatomegaly
Hypertrophic Cardiomyopathy
10
Q
A
