When is Phenylketonuria (PKU) testing performed?

Phenylketonuria (PKU) testing is performed at birth as part of routine newborn screening. This early testing is crucial because PKU is a genetic disorder that can lead to serious health problems, including intellectual disability and neurological issues, if not diagnosed and managed promptly. The condition arises from a deficiency in the enzyme that breaks down phenylalanine, an amino acid found in many foods. By detecting PKU shortly after birth, healthcare providers can implement dietary interventions to manage the disorder and prevent potential complications. Testing at birth allows for this critical early intervention to safeguard the child's developmental health.