GSD Flashcards
1
Q
Growth Failure
A
Von Gierke’s
2
Q
Early Death
A
GSD Type 0
3
Q
Mild Infrequent Hypoglycemia
A
Her’s
4
Q
Exercise-Induced Muscle Pain
A
McArdle’s
5
Q
Huge Heart
A
Pompe’s
LSD
6
Q
Short Glycogen Branches
A
Cori’s
7
Q
Glycogen Deposits with abnormally long straight polymers
A
Andersen’s
8
Q
Von Geirke’s S/S
A
Enlarged Liver and Kidney
growth failure
hyperlipidemia
elevated AST and ALT
9
Q
Von Geirke’s Defect
A
Glucose-6-Phosphatase
10
Q
GSD Type 0 Defect
A
Glycogen Synthase
11
Q
Her’s Defect
A
Liver Phosphorylase
12
Q
McArdle’s Defect
A
Muscle Phosphorylase
13
Q
Pompe’s S/S
A
Muscle hypotonia, cardiac failure, variable cardiac involvement, glycogen deposits in lysosomes
14
Q
Pompe’s Defect
A
Lysosomal α-glucosidase
15
Q
Cori’s Defect
A
Debranching Enzyme
