The Phenylketonuria Diagnosis Information Page is a collaborative project of NeedyMeds and the National PKU Alliance. It is intended to provide information on Phenylketonuria and to help those with Phenylketonuria find assistance paying for their medications.

Phenylketonuria (PKU) is a rare disease where your body cannot process an amino acid called phenylalanine (Phe for short). Phe mainly comes from protein-rich foods such as meat, eggs, nuts, beans, milk and cheese. Every newborn baby is tested for PKU by taking a blood sample and measuring the amount of Phe. Without early and continuous treatment, sustained high levels of Phe can cause severe intellectual disabilities. These disabilities can be prevented by controlling blood Phe levels by drinking a special medical formula free of Phe three times a day and following a strict low-protein diet, starting in the weeks after birth and continuing for life. The National PKU Alliance works to improve the lives of families and individuals associated with PKU through research, support, education and advocacy, while ultimately seeking a cure.

PKU can be treated by a diet low in phenylalanine and high in tyrosine. While there is no cure, in recent years a few drug products have become available that can be used in limited cases to mitigate the effects of the disorder. Other therapies currently under investigation include an injectable form of PAH and gene therapy. There are also a number of Medical Formulas suggested by the National PKU Alliance that can be found in the links below. Below, please find a list of medications commonly used in the treatment of this diagnosis. Click on the hyperlink to find whether a savings program is available for that particular drug.

The National PKU Alliance and NeedyMeds neither promote nor endorse the therapies listed below nor the supporters of this page. This page is for educational purposes only.

Click HERE to learn more about how to use the information on the website and click HERE for more details on pharmaceutical patient assistance programs.

Medications used in the treatment of Phenylketonuria

Click on the drug name to see what programs are available for the drug:

RX Outreach Additional Resources: