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Diseases

Genetic and Rare Diseases Information Center (GARD)

Phenylketonuria


Other Names for this Disease
  • PKU
  • Phenylalanine hydroxylase deficiency
  • Oligophrenia phenylpyruvica
  • Folling disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Phenylketonuria (PKU) is an inherited disorder that increases the levels of phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. If PKU is not treated, phenylalanine can build up to harmful levels in the body. The signs and symptoms of PKU vary from mild to severe. The most severe form of this disorder is known as classic PKU. Without treatment, these children develop permanent intellectual disability. Light skin and hair, seizures, delayed development, behavioral problems, and psychiatric disorders are also common. Less severe forms of this condition, sometimes called variant PKU and non-PKU hyperphenylalaninemia, have a smaller risk of brain damage. Babies born to mothers with PKU and women who no longer follow a low-phenylalanine diet have a risk of intellectual disability because they are exposed to very high levels of phenylalanine before birth. PKU is caused by changes (mutations ) in the PAH gene. It is inherited in an autosomal recessive manner. Because PKU can be detected by a simple blood test and is treatable, newborn screening is available for this disorder.[1][2] The best treatment for PKU is a diet of low-protein foods.[3]
Last updated: 12/28/2015

References

  1. Phenylketonuria. Genetics Home Reference Web site. February, 2012; http://ghr.nlm.nih.gov/condition=phenylketonuria. Accessed 12/28/2015.
  2. Mitchell JJ. Phenylalanine Hydroxylase Deficiency. GeneReviews. January 31, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1504/. Accessed 12/28/2015.
  3. Phenylketonuria. MedlinePlus Web site. December 23 2015; http://www.nlm.nih.gov/medlineplus/phenylketonuria.html. Accessed 12/28/2015.
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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) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
  • 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 Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a 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.
Other Names for this Disease
  • PKU
  • Phenylalanine hydroxylase deficiency
  • Oligophrenia phenylpyruvica
  • Folling disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.