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PKU screening is a routine newborn screening to check for phenylketonuria, a rare metabolic disorder. It is important to identify PKU early to prevent neurological problems. The screening is done with a heel stick or urine test, and if positive, the child is referred to a metabolic specialist. PKU is genetic and symptoms can show up within weeks if not screened. Parents should contact a pediatrician if they notice any changes in their child.
PKU screening is a recommended newborn screening in which a doctor checks if a baby has phenylketonuria (PKU), a rare metabolic disorder. This test is routinely performed after birth in many regions of the world, often within the first 24 hours of a baby’s life. It is part of a group of newborn screenings that aim to identify problems early so they can be addressed before they cause complications. These screenings are offered to new parents by pediatricians and neonatologists who can also discuss optional additional screenings that may be recommended for specific situations.
People with phenylketonuria are unable to process phenylalanine, an important amino acid. As a result, phenylalanine builds up in the body, leading to the development of neurological problems including seizures and brain damage. The damage can occur within weeks, making it crucial to identify phenylketonuria with a PKU screening as early as possible so steps can be taken to address it.
Classically, PKU screening is done with a heel stick. The child’s heel is cleaned with rubbing alcohol and pricked to collect a small blood sample which can be done to check for phenylketonuria. Sometimes the test is done with urine. If the results are negative, the child is given a clean bill of health, and if they are positive, the child is referred to a metabolic specialist. Your doctor can make management recommendations for PKU to reduce your child’s risk of developing neurological problems.
PKU is genetic and the incidence varies among different populations. People who have a family history of PKU should be sure to mention it before a PKU screening, and people should also make sure their doctors are familiar with their family history in general. This can be used to identify risk factors that may be considered when recommending newborn screenings.
If a child is not checked for PKU with a PKU screening and the child has the condition, symptoms will show up within a few weeks. They can include a musty smell, a rash, and restlessness. If parents notice a change in their child, whether or not the child has been screened for common disorders, they should contact a pediatrician for an evaluation. A wide range of things can lead to things like personality changes, skin rashes, sleep disturbances, and other problems in a newborn, and doctors are usually happy to conduct an exam to be on the safe side.
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