glycogen storage diseases Flashcards
1
Q
Enzyme: G6P
lactic acidosis hepatomegaly severe hypoglycemia short stature doll-like facies (Cherubin facies)
A
Glucose-6-phosphatase deficiency
Von Gierke’s Disease
2
Q
Type 1 GSD
A
Glucose-6-phosphatase deficiency
Von Gierke’s Disease
3
Q
Acid Maltase
Alpha Glucosidase
A
Pompe’s Disease
4
Q
Type 2 GSD
A
Pompe’s Disease
5
Q
accumulation of glycogen in lysosomes: Juvenile inset variant, muscle hypotonia, death from heart failure by age 2
A
Pompe’s Disease
6
Q
Liver & Muscle Debranching Enzyme
A
Cori’s Disease
7
Q
Type 3 GSD
A
Cori’s Disease
8
Q
muscle phosphorylase
A
McArdle’s
9
Q
Type 5
A
McArdles’s
10
Q
Branching Enzyme
type 4
A
Andersen Disease
11
Q
poor exercise tolerance
muscle glycogen abnormally high
blood lactate very low after exercise
A
McArdle’s
12
Q
PFK
type 7
A
Tarui’s
13
Q
same as mcArdle (poor exercise tolerance muscle glycogen abnormally high blood lactate very low after exercise) \+ Hemolytic Anemia
A
Tarui’s
14
Q
type 6 GSD
hepatic glycogen phosphorylase
A
Hers Disease
15
Q
most benign
A
Hers disease
