Phenylketonuria (PKU): For Patients and Consumers

General Information on Phenylketonuria

These sites offer general information on phenylketonuria for members of the public, including information on symptoms, testing, and prevention.

• NIH:
  • National Library of Medicine, Genetics Home Reference: How can I find a genetics professional in my area?
  • National Library of Medicine, Genetics Home Reference: Inheriting genetic conditions
  • National Library of Medicine, Genetics Home Reference: Phenylketonuria
  • National Library of Medicine, MedlinePlus: Phenylketonuria
  • National Library of Medicine, Serum phenylalanine screening
• March of Dimes:
  • PKU (Phenylketonuria): English version
  • Fenilcetonuria (Phenylketonuria): Spanish version
• National PKU News
• University of Washington:
  • Cristine M. Trahms Program for Phenylketonuria
  • Monitoring Blood Phenylalanine Levels at Home (PDF – 179 KB)
  • New Parents' Guide to PKU (PDF – 406 KB)
  • What is the Diet for PKU?

Services, Resources, and Support

• Children's PKU Network
• March of Dimes
• Mid-Atlantic Connection for PKU and Allied Disorders
• National PKU Alliance

The NICHD Information Resource Center

Phone: 800­370­2943 (TTY: 888­320­6942)
Fax: 877­760­5947
Email: NICHDInformationResourceCenter@mail.nih.gov

Please note: Links to organizations and information included on this page do not indicate endorsement from the NICHD, NIH, or HHS.