Phenylketonuria

Genetic and Rare Diseases Information Center (GARD)

PKU
Phenylalanine hydroxylase deficiency
Oligophrenia phenylpyruvica
Folling disease

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Phenylketonuria
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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]

References

Phenylketonuria. MedlinePlus Web site. October 10, 2007 Available at: http://www.nlm.nih.gov/medlineplus/phenylketonuria.html. Accessed March 3, 2008.

Questions & Answers (Found 1 Question)

A list of questions from the public on rare and/or genetic diseases that have been answered by the Genetic and Rare Disease Information Center. Click on each question to find the answer.

Is it true that PKU testing became a test for all babies in the 1960's? If both parents have the gene, why aren't they affected by PKU early in or later in their lives? What is the chance of false positives/false negatives on the first PKU test taken at the hospital for an infant? (Click here for answer)

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For more information about Phenylketonuria click on the boxes below:

More Detailed Information	NLM Gateway	Medical Products	Services	Support Groups	Clinical Trials & Research

General \| Management Guidelines \| Newborn Screening
More Detailed Information (Found 20 resources) Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates General 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. The Genetic Alliance is an international coalition comprised of more than 600 advocacy, research and health care organizations representing millions of individuals with genetic conditions. Click on the link to view information on this topic. Genetics Home Reference (GHR) contains a condition summary on Phenylketonuria. Click on the link to go to GHR and review this summary. MedlinePlus, a Web site designed by the National Library of Medicine Web site to help you research your health questions, provides more information about this topic. Click on the link to view this information. 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 Center for Biotechnology Information (NCBI) was established in 1988 as a national resource for molecular biology information. Click on the link to view information on this topic. 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 Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Phenylketonuria. Click on the link to go to OMIM and review these resources. Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic. 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. Management Guidelines Women with PKU who want to become pregnant can obtain a maternal express packet of information from the Children's PKU Network - free of charge - designed to assist women with their diet. Wappner, et al. Management of Phenylketonuria for Optimal Outcome: A Review of Guidelines for Phenylketonuria Management and a Report of Surveys of Parents, Patients, and Clinic Directors. Pediatrics.1999;104:e68. GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic. National Institutes of Health Consensus Development Panel. National Institutes of Health Consensus Development Conference Statement: Phenylketonuria: Screening and Management October 16-18, 2000. Pediatrics. 2001;108:972-982. You can find diet-related information on the PKU News Web site. Click on the link to view. Newborn Screening The U.S. National Newborn Screening Status Report lists the status of newborn screening state by state and is available on the National Newborn Screening and Genetic Resource Center (NNSGRC) Web site. The NNSGRC provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials. Click on the link above to view the report. An ACTion (ACT) sheet for this condition has been developed by experts in collaboration with the American College of Medical Genetics, an organization providing education, resources and a voice for the medical genetics profession. ACT sheets are general guidelines that describe the short-term actions a health professional should follow in talking with the family and deciding the appropriate steps in the follow-up of an infant who has screened positive on a newborn screening test. Click on the link above to view the ACT sheet. An Algorithm for this condition has been developed by experts in collaboration with the American College of Medical Genetics, an organization providing education, resources and a voice for the medical genetics profession. Algorithms are general guidelines for healthcare providers outlining steps involved in determining the diagnosis of an infant who has screened positive on a newborn screening test. Click on the link above to view the Algorithm. When an infant is newly diagnosed with PKU, the Children's PKU Network will send the parents an express pack of information to help the family get adjusted. This packet is free of charge. Click on the link to read more about how to obtain a packet.

General | Management Guidelines | Newborn Screening

More Detailed Information (Found 20 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates

General
- 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.
- The Genetic Alliance is an international coalition comprised of more than 600 advocacy, research and health care organizations representing millions of individuals with genetic conditions. Click on the link to view information on this topic.
- Genetics Home Reference (GHR) contains a condition summary on Phenylketonuria. Click on the link to go to GHR and review this summary.
- MedlinePlus, a Web site designed by the National Library of Medicine Web site to help you research your health questions, provides more information about this topic. Click on the link to view this information.
- 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 Center for Biotechnology Information (NCBI) was established in 1988 as a national resource for molecular biology information. Click on the link to view information on this topic.
- 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 Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Phenylketonuria. Click on the link to go to OMIM and review these resources.
- Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
Management Guidelines
- Women with PKU who want to become pregnant can obtain a maternal express packet of information from the Children's PKU Network - free of charge - designed to assist women with their diet.
- Wappner, et al. Management of Phenylketonuria for Optimal Outcome: A Review of Guidelines for Phenylketonuria Management and a Report of Surveys of Parents, Patients, and Clinic Directors. Pediatrics.1999;104:e68.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
- National Institutes of Health Consensus Development Panel. National Institutes of Health Consensus Development Conference Statement: Phenylketonuria: Screening and Management October 16-18, 2000. Pediatrics. 2001;108:972-982.
- You can find diet-related information on the PKU News Web site. Click on the link to view.
Newborn Screening
- The U.S. National Newborn Screening Status Report lists the status of newborn screening state by state and is available on the National Newborn Screening and Genetic Resource Center (NNSGRC) Web site. The NNSGRC provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials. Click on the link above to view the report.
- An ACTion (ACT) sheet for this condition has been developed by experts in collaboration with the American College of Medical Genetics, an organization providing education, resources and a voice for the medical genetics profession. ACT sheets are general guidelines that describe the short-term actions a health professional should follow in talking with the family and deciding the appropriate steps in the follow-up of an infant who has screened positive on a newborn screening test. Click on the link above to view the ACT sheet.
- An Algorithm for this condition has been developed by experts in collaboration with the American College of Medical Genetics, an organization providing education, resources and a voice for the medical genetics profession. Algorithms are general guidelines for healthcare providers outlining steps involved in determining the diagnosis of an infant who has screened positive on a newborn screening test. Click on the link above to view the Algorithm.
- When an infant is newly diagnosed with PKU, the Children's PKU Network will send the parents an express pack of information to help the family get adjusted. This packet is free of charge. Click on the link to read more about how to obtain a packet.


NLM Gateway (Found 1 resource) A tool to search across multiple resources offered on the National Library of Medicine's Website NLM Gateway allows users to search many resources offered on the National Library of Medicine's Web site at once to quickly find more information about this condition. Some of the resources may be a duplicate of the resources listed on this page. To search NLM Gateway, click on the link; the condition name will already be in the search box, so you can just click the “Search” button.

NLM Gateway (Found 1 resource)
A tool to search across multiple resources offered on the National Library of Medicine's Website

- NLM Gateway allows users to search many resources offered on the National Library of Medicine's Web site at once to quickly find more information about this condition. Some of the resources may be a duplicate of the resources listed on this page. To search NLM Gateway, click on the link; the condition name will already be in the search box, so you can just click the “Search” button.

Medical Products (Found 1 resource)

U.S. Food and Drug Administration

The Office of Orphan Products Development (OOPD)

The medications listed in the table below have been approved by the Food and Drug Administration (FDA) for treatment of this condition. The FDA Office of Orphan Products Development designates "orphan products" for those that treat rare diseases affecting fewer than 200,000 Americans. The table below may not be an exhaustive list of drugs or products used to treat this condition. There may be other products available that are not considered orphan products. To search all FDA approved drugs, visit Drugs@FDA You can find orphan products used to treat other conditions by searching the Orphan Drug Product Designation database.

Generic Name	Trade Name (Manufacturer Name)	Indication	Resources
Sapropterin	Kuvan® (Biomarin Pharmaceutical Inc.)	Indicated to reduce blood phenylalanine (Phe) levels in patients with hyperphenylalaninemia (HPA) due to tetrahydrobiopterin- (BH4-) responsive Phenylketonuria (PKU). Kuvan is to be used in conjunction with a Phe-restricted diet.	Daily Med MedlinePlus


Services (Found 1 resource) Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories Testing GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.

Services (Found 1 resource)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories

Testing
- GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.

Umbrella Organizations \| Disease-Specific Organizations \| Live Chat/E-mail Lists \| Parent Matching Organizations
Support Groups (Found 8 resources) Groups providing a wide range of services, supportive resources, and information Umbrella Organizations Genetic Alliance 4301 Connecticut Avenue NW Suite 404 Washington, DC 20008-2369 Telephone: 202-966-5557 Fax: 202-966-8553 E-mail: info@geneticalliance.org Web site: http://www.geneticalliance.org National Organization for Rare Disorders (NORD) 55 Kenosia Avenue PO Box 1968 Danbury, CT 06813-1968 Toll-free: 1-800-999-6673 (voicemail only) Telephone: 203-744-0100 TTY: 203-797-9590 Fax: 203-798-2291 E-mail: orphan@rarediseases.org Web site: http://www.rarediseases.org/ Disease-Specific Organizations National PKU News By Virginia Schuett, MS, RD, Director and Editor 6869 Woodlawn Ave. NE #116 Seattle, WA 98115-5469 Tel: 206-525-8140 Fax: 206-525-5023 Email: schuett@pkunews.org Web site: http://www.pkunews.org/ National Organization for Rare Disorders 55 Kenosia Avenue PO Box 1968 Danbury, CT 06813-1968 Toll free: 800-999-6673 (voicemail only) Telephone: 203-744-0100 TDD: 203-797-9590 Fax: 203-798-2291 E-mail: orphan@rarediseases.org Web site: http://www.rarediseases.org/ Children’s PKU Network 3790 Via De La Valle, Suite 120 Del Mar, CA 92075 Toll free: 800-377-6677 Phone: 858-509-0767 Fax: 858-509-0768 Email: pkunetwork@aol.com Web site: http://www.pkunetwork.org/ Live Chat/E-mail Lists The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more. RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more. Parent Matching Organizations Madisons Foundation P.O. Box 241956 Los Angeles, CA 90024 Telephone: 310-264-0826 Fax: 310-264-4766 E-mail: getinfo@madisonsfoundation.org Web site: http://www.madisonsfoundation.org/

Umbrella Organizations | Disease-Specific Organizations | Live Chat/E-mail Lists | Parent Matching Organizations

Support Groups (Found 8 resources)
Groups providing a wide range of services, supportive resources, and information

Umbrella Organizations
- Genetic Alliance
  4301 Connecticut Avenue NW
  Suite 404
  Washington, DC 20008-2369
  Telephone: 202-966-5557
  Fax: 202-966-8553
  E-mail: info@geneticalliance.org
  Web site: http://www.geneticalliance.org
- National Organization for Rare Disorders (NORD)
  55 Kenosia Avenue
  PO Box 1968
  Danbury, CT 06813-1968
  Toll-free: 1-800-999-6673 (voicemail only)
  Telephone: 203-744-0100
  TTY: 203-797-9590
  Fax: 203-798-2291
  E-mail: orphan@rarediseases.org
  Web site: http://www.rarediseases.org/
Disease-Specific Organizations
- National PKU News
  By Virginia Schuett, MS, RD, Director and Editor
  6869 Woodlawn Ave. NE #116
  Seattle, WA 98115-5469
  Tel: 206-525-8140
  Fax: 206-525-5023
  Email: schuett@pkunews.org
  Web site: http://www.pkunews.org/
- National Organization for Rare Disorders
  55 Kenosia Avenue
  PO Box 1968
  Danbury, CT 06813-1968
  Toll free: 800-999-6673 (voicemail only)
  Telephone: 203-744-0100
  TDD: 203-797-9590
  Fax:  203-798-2291
  E-mail:   orphan@rarediseases.org
  Web site:   http://www.rarediseases.org/
- Children’s PKU Network
  3790 Via De La Valle, Suite 120
  Del Mar, CA 92075
  Toll free: 800-377-6677
  Phone: 858-509-0767
  Fax: 858-509-0768
  Email: pkunetwork@aol.com
  Web site: http://www.pkunetwork.org/
Live Chat/E-mail Lists
- The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
- RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
Parent Matching Organizations
- Madisons Foundation
  P.O. Box 241956
  Los Angeles, CA 90024
  Telephone: 310-264-0826
  Fax: 310-264-4766
  E-mail: getinfo@madisonsfoundation.org
  Web site: http://www.madisonsfoundation.org/


Clinical Trials & Research (Found 2 resources) Resources where you may find research studies and clinical trials ClinicalTrials.gov lists trials that are studying or have studied Phenylketonuria. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies. To help you stay up-to-date on ongoing PKU research visit the PKU News Web site. Click on the link to view research information.

Clinical Trials & Research (Found 2 resources)
Resources where you may find research studies and clinical trials

- ClinicalTrials.gov lists trials that are studying or have studied Phenylketonuria. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
- To help you stay up-to-date on ongoing PKU research visit the PKU News Web site. Click on the link to view research information.

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