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

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2
Q

Galactosemia can be detected in newborn screening

T or F

A

T

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3
Q

2 types of Glycogen Storage disease?

A

Hepatic Glycogenosis

Muscle glycogenosis

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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

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5
Q

Manifest with exercise intolerance muscle cramps, fatigue, and weakness

A

Muscle glycogenosis

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6
Q

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

T or F

A

T

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