Phenylketonuria (PKU)

Question 1

MC inborn error of amino acid metabolism

Answer 1

Phenylketonuria (PKU)

Question 2

What is PKU

Answer 2

Phenylalanine hydroxylase (PAH) normally converts phenylalanine (PHE) into tyrosine

Phenylketonuria (PKU) is a genetic error causing PAH to not work right. PHE build ups -> brain toxicity

Question 3

Risks for PKU

Answer 3

European or Native American ancestry
Having two parents with the gene

Question 4

baby was normal at birth but now has a Musty mousy urine smell

Answer 4

Phenylketonuria (PKU)

build up of Phenylalanine makes you smell bad

Question 5

An amino acid new born screen on a baby with PKU will show _____ Phenylalanine and ______ tyrosine

Answer 5

HIGH Phenylalanine
LOW tyrosine

Question 6

How often does Phenylalanine need to be monitored after a PKU Dx?

Answer 6

Weekly during the 1st year
Twice a month from age 1-12
Monthly after the age of 12

Question 7

Avoid what types of food if you have PKU

Answer 7

meat, chicken, and protein products