Phenylketonuria (PKU) - heel prick screening
About phenylketonuria
Phenylketonuria (PKU) is an inherited condition. It means that a baby's body cannot break down the amino acid phenylalanine, which is found in protein.
This is caused by a problem with a gene, which limits production of the enzyme needed to break down phenylalanine.
High levels of phenylalanine in a baby's body are harmful. If untreated, they can lead to intellectual or physical disability.
Babies born in Ireland with PKU
Around 1 in every 4,500 babies born in Ireland will have PKU or a milder form called hyperphenylalaninaemia.
If both parents carry the altered gene they have a 1 in 4 chance of having a baby with PKU.
How heel prick screening can help
If the heel prick suggests your baby may have PKU, they will be referred to a specialist.
Your baby will be put on a special low-protein diet.
When babies with PKU are diagnosed as newborns and started on treatment, they grow up healthy and well, once the diet is adhered to.