Phenylketonuria (PKU) Program

The Phenylketonuria Program promotes normal development and prevents severe mental retardation and other symptoms of brain dysfunction in children with PKU by placing them on a low phenylalanine diet. The PKU Program is a state-supported program for children and young adults diagnosed with this rare metabolic disorder of an amino acid. Services include medical evaluations, nutrition counseling, psychological testing and genetic counseling. Patients are seen at frequent intervals; a nurse may periodically visit the home to obtain blood specimens. Carrier testing can be arranged for family members. The Maternal PKU Program is a preventive program for young women and girls 12 years or older with elevated phenylalanine in the years before childbearing.

Referral Requirements

Patients must live in western Pennsylvania and have the diagnosis of PKU or hyperphenylalaninemia. State referral or self-referral is accepted. Referrals for patients enrolled in managed care insurance plans may require authorization from the insurance provider and primary care physician. All necessary referral and authorization forms must be received before the patient's visit.


  • Phenylketonuria (PKU) Program

    UPMC Children's Hospital of Pittsburgh
    4401 Penn Avenue
    Floor 3
    Pittsburgh, PA 15224
    412-692-6472 Faxtop