2.1.7 Carbohydrates (Inborn errors of CHO metabolism))

Question 1

Due to a deficiency of the enzyme galactose-1-phosphate uridyl transferase

a. Galactosemia
b. Glycogen storage disease

Answer 1

a

Question 2

Galactosemia can be detected in newborn screening

T or F

Answer 2

T

Question 3

2 types of Glycogen Storage disease?

Answer 3

Hepatic Glycogenosis

Muscle glycogenosis

Question 4

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

Answer 4

b

Question 5

Manifest with exercise intolerance muscle cramps, fatigue, and weakness

Answer 5

Muscle glycogenosis

Question 6

Muscle glycogenosis cause an increased in skeletal muscle enzymes: CK, AST LD, aldolase

T or F

Answer 6

T