Phenylketonuria (PKU) Resources

General Information

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

• NIH
  The National Library of Medicine (NLM) provides several resources:
  • NLM’s MedlinePlus provides general information on PKU, including information on how to find a genetics professional in your area and inheriting genetic conditions, as well as information on serum phenylalanine screening.
• March of Dimes
  The March of Dimes provides a fact sheet on PKU in your baby .
• National PKU News
  This nonprofit organization is dedicated to providing up-to-date news and information on PKU.
• University of Washington
  The Cristine M. Trahms Program for Phenylketonuria provides resources for families of children with PKU:
  • 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

• Mid-Atlantic Connection for PKU and Allied Disorders
  This is a network of individuals and families affected by PKU.
• National PKU Alliance
  The alliance is a lay advocacy organization that advances PKU research, supports local PKU organizations, and raises awareness about PKU.

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

NIH Resources

• National Library of Medicine, MedlinePlus: Phenylketonuria
  This webpage provides basic information and links to journal articles, clinical trials, and other publications.
• NICHD’s Intellectual and Developmental Disabilities Branch
  This branch sponsors research and research training focused on preventing and lessening the impact of intellectual and related developmental disabilities. This includes supporting biomedical, biobehavioral, and translational research in many areas related to these disabilities.
• Report of the NIH Consensus Development Conference on Phenylketonuria (PKU)
  Screening and Management: In 2000, the NIH Consensus Development Conference on Phenylketonuria, sponsored by NICHD and other agencies and organizations, released a statement on screening and dietary recommendations for PKU. The report addresses such topics as the best strategies for lifelong disease management and future research needs.

Other Resources

• American College of Medical Genetics and Genomics
  This organization provides education, guidelines, and additional resources for geneticists, genetic counselors, and other health professionals.
• Challenges and Pitfalls in the Management of Phenylketonuria
  This 2010 Pediatrics state-of-the-art review article describes PKU, the disorder’s effects, and options for treating it.
• Clinical utility gene card for phenylketonuria  (PDF 171 KB)
  This article summarizes 2012 guidelines on the clinical utility of genetic testing for PKU.
• Phenylalanine Hydroxylase Deficiency
  This GeneReviews^® chapter provided by the National Center for Biotechnology Information, updated in 2010, is an expert-authored, peer-reviewed description of the enzyme deficiency that causes PKU.
• Maternal Phenylketonuria International Study 
  This article, which appeared in Pediatrics in 2003, reviews health outcomes for women and their children based on an 18-year study on the efficacy of a phenylalanine-restricted diet in preventing the morbidity associated with maternal PKU.
• Online Mendelian Inheritance in Man^® (OMIM®)
  The PKU entry in OMIM, which is an online catalog of human genes and genetic disorders published by Johns Hopkins University School of Medicine, covers clinical management, population genetics, and other topics related to PKU.
• Orphanet
  This international website maintains, updates, and develops information about rare diseases and orphan drugs.
• Phenylketonuria
  This 2010 Lancet article addresses such topics as PKU’s epidemiology, pathophysiology, and treatment options.
• Screening for Phenylketonuria (PKU): U.S. Preventive Services Task Force Reaffirmation Recommendation
  This statement, updated in 2008, outlines the task force’s recommendation on PKU screening.
• American Academy of Pediatrics (AAP)
  The AAP publishes the journal Pediatrics, which includes articles on PKU, such as "Cognitive and behavioral development in maternal phenylketonuria offspring" . The AAP also provides resources on newborn screening .
• Advisory Committee on Heritable Disorders in Newborns and Children
  This committee advises the Secretary of Health and Human Services on newborn screening with the goal of reducing morbidity and mortality in newborns and children who have or are at risk for heritable disorders.

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