2.1.7 Carbohydrates (Inborn errors of CHO metabolism)) Flashcards
1
Q
Due to a deficiency of the enzyme galactose-1-phosphate uridyl transferase
a. Galactosemia
b. Glycogen storage disease
A
a
2
Q
Galactosemia can be detected in newborn screening
T or F
A
T
3
Q
2 types of Glycogen Storage disease?
A
Hepatic Glycogenosis
Muscle glycogenosis
4
Q
Most common hepatic glycogenosis whete the glucose 6 phosphatase is deficient?
a. von Albert diease
b. von Gierke disease
c. von Muntilagro disease
d. von George disease
A
b
5
Q
Manifest with exercise intolerance muscle cramps, fatigue, and weakness
A
Muscle glycogenosis
6
Q
Muscle glycogenosis cause an increased in skeletal muscle enzymes: CK, AST LD, aldolase
T or F
A
T