Question

A newborn who has remained in the hospital because the mother had a cesarean birth is to be tested for phenylketonuria (PKU) on the morning of discharge. What should the nurse explain to the mother about the purpose of PKU testing?

Answer 1

PKU testing is conducted to detect newborns with a deficiency in phenylalanine hydroxylase, necessary for breaking down phenylalanine.

Step-by-step explanation:

Phenylketonuria (PKU) testing in newborns is a critical health screening that helps identify infants with an inability to break down the amino acid phenylalanine, due to deficient activity of the enzyme phenylalanine hydroxylase. Without proper management, PKU can lead to toxic levels of phenylalanine in the body, causing severe neurological and developmental damage.

Pregnant individuals with PKU must be especially vigilant, as excess phenylalanine can cross the placenta and adversely affect fetal development, leading to heart defects and intellectual disability. The nurse should communicate to the mother that the PKU test is a preventative measure taken as part of routine newborn screening to ensure the long-term health and well-being of the child. Timely diagnosis and dietary intervention are pivotal in reducing the risk of irreversible damage.

Newborns with PKU must avoid certain foods and artificial sweeteners, particularly aspartame, which contains high concentrations of phenylalanine. The guidance of a healthcare provider or dietician is imperative to manage PKU effectively.