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Genetic and Rare Diseases Information Center (GARD)

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Other Names for this Disease
  • Folling disease
  • Oligophrenia phenylpyruvica
  • Phenylalanine hydroxylase deficiency
  • PKU
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Phenylketonuria (PKU) is an inherited condition that is caused by toxic levels of phenylalanine in the body. If left untreated, this buildup of phenylalanine can cause severe intellectual disabilities.  Because PKU can be detected by a simple blood test and is treatable, newborn screening is available for this disorder.[1]
Last updated: 11/30/2009


  1. Phenylketonuria. MedlinePlus Web site. October 10, 2007; Accessed 3/3/2008.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

1 question(s) from the public on Phenylketonuria have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) provides information related to the health of children, adults, and families. Click on the link to view information on this topic. 
  • Genetics Home Reference (GHR) contains information on Phenylketonuria. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • MedlinePlus a service of the National Library of Medicine (NLM) at the National Institutes of Health (NIH) provides an encyclopedia article about phenylketonuria (PKU).  To view the article, click on the MedlinePlus link.
  • The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • The Screening, Technology And Research in Genetics (STAR-G) Project has a fact sheet on this condition, which was written specifically for families that have received a diagnosis as a result of newborn screening. This fact sheet provides general information about the condition and answers questions that are of particular concern to parents.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Phenylketonuria. Click on the link to view a sample search on this topic.