NIH Resources
National Library of Medicine, MedlinePlus: Phenylketonuria: This webpage provides basic information and links to journal articles, clinical trials, and other publications.
The NICHD 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 the 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: The 2010 Pediatrics state-of-the-art review article describes PKU, its effects, and options for treating the disorder.
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: The 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.
Newborn Screening Translational Research Network (NBSTRN): NBSTRN is a resource for investigators engaged in research related to newborn screening, including new technology development and emerging treatments. The network, which is funded by the NICHD, offers investigator FAQs, NIH grant-submission timelines, and other research tools.
Online Mendelian Inheritance in Man® (OMIM®): Phenylketonuria: This 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.
Phenylalanine Hydroxylase Locus Knowledgebase: This database, curated by McGill University, provides searchable information about mutations in the phenylalanine hydroxylase gene.
Phenylketonuria: The 2010 Lancet article addresses such topics as the epidemiology of PKU, its 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.
Please note: Links to organizations and information included on this page do not indicate endorsement from the NICHD, NIH, or HHS.