This website is intended for Healthcare Professionals practicing in the U.S.

Resources for phenylketonuria healthcare providers

Patient advocacy groups

National PKU Alliance (NPKUA)

The NPKUA is a collaboration of phenylketonuria (PKU) community members joining together as a national voice and supporting local efforts to raise phenylketonuria (PKU) awareness and drive advocacy and education, while ultimately looking for a cure. >

National PKU News

National PKU News provides resources and support for individuals, families, and clinicians managing PKU and other inborn errors of metabolism. >

There are many Patient Advocacy Groups and institutes available to support patients with PKU. Check for more in your area.

Summary of key publications

Relationship Between Elevated Phe and Neuropsychiatric Symptoms and Cognitive Deficits in Adults With PKU


Expert Panel Provides Strategic Recommendations for Managing Adolescents and Young Adults With PKU1


Learn more about PKU

Symptoms of uncontrolled Phe levels icon

Learn the symptoms of uncontrolled PKU

Experts icon

Hear what the experts say

Stay connected with the latest PKU information

Register below to connect with a BioMarin representative, learn about upcoming PKU events and news, or request a peer-to-peer discussion.

* Required fields

Contact a Representative