Phenylketonuria (PKU) Program

The Phenylketonuria Program promotes normal development and prevents severe intellectual disability 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 should live in the Western half of Pennsylvania or if in neighboring states closer to the border with Pennsylvania and have the diagnosis of PKU or hyperphenylalaninemia. State referral, provider referral, or self-referral is accepted. Referral by the primary care provider or prior authorization may be required by the primary commercial insurance OR a medical assistance insurance. Patients are required to check with their insurance if a referral or prior authorization is needed for the appointment. Necessary referral and prior authorization as well as medical records must be received before the patient's visit. Patients from Pennsylvania that are denied insurance coverage or do not have health insurance should contact Genetics.