GSD BIOCHEM Flashcards
1
Q
Affects muscle and phosphofructokinase enzyme
Deficiency: MUSCLE PFK-1
A
Tarui’s Disease (T7)
2
Q
DEFICIENCY: branching enzyme
HYPOGLYCEMIA, HEPATOMEGALY
A
Andersen’s Disease (T4)
3
Q
Deficiency: glycogen synthase
HYPOGLYCEMIA
A
GSD 0
4
Q
Deficiency: liver phosphorylase
HYPOGLYCEMIA
A
Her’s Disease (T6)
5
Q
Deficiency: Glucose-6-phosphate
HYPOGLYCEMIA
A
Von Gierke’s (T1)
6
Q
DEFICIENCY: Lysosomal Glucosidase(acid maltase)
CARDIOMEGALY. HEART FAILURE
A
Pompe’s (T2)
7
Q
Deficiency: live and muscle debranching enzyme
HYPOGLYCEMIA, HEPATOMEGALY
A
Cori’s Disease (T3)
8
Q
Deficiency: muscle phosphorylase
MUSCLE WEAKNESS
A
McArdle’s Disease (T5)