Inborn errors of met

Question 1

galactosemia is due to missing ___ to convert _ to _

Answer 1

enzyme, galactose-1-PO4 to glucose-1-PO4

Question 2

Treat galactosemia by ___

Answer 2

diet galactose and lactose free

Question 3

treat urea cycle defects by restricting ___

Answer 3

protein

Question 4

pku miss enzyme__ to convert ___ to ___

Answer 4

phenylalanine hydroxylase phenyalanine to tyrosine

Question 5

what naturally contain galactose?

Answer 5

organ meats MSG

Question 6

Diet for PKU:

Answer 6

restrict PHE, supplement TYR, Avoid aspartame

Question 7

glycogen storage dz have problem with convert ___ to ___ lead to __

Answer 7

glycogen glucose hypoglycemia

Question 8

Diet of glycogen storage dz

Answer 8

high carb low fat

Question 9

homocystinurias is a ___, ___ disorder of ___ ___ metabolism

Answer 9

treatable, inherited of AA

Question 10

HOMOCYSTINURIAS nutrients: diets

Answer 10

folate B6 B12, low protein, low methionine diet

Question 11

maple syrup urine dz is an inborn error of __ avoid___

Answer 11

BCAA, Avoid eggs, meat, nuts, other dairy

Question 12

what may have anemia but does not correlate with iron intake, may show symptoms of celiac dz

Answer 12

Systemic lupus erythematosus