Phenylketonuria

Common Name(s)

Phenylketonuria, Phenylketonuria (PKU)

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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Phenylketonuria" for support, advocacy or research.

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California Coalition for PKU and Allied Disorders

To Educate, Inform, Support and Inspire those with PKU and other Inborn Errors of Metabolism in and around California.

http://www.ccpkuad.org

Last Updated: 15 Jan 2013

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Children's PKU Network

CPN is a non-profit organization dedicated to maintaining an agenda of public awareness, education and direct assistance through a variety of programs, to help people with PKU and other metabolic disorders reach their full potential.

http://www.pkunetwork.org

Last Updated: 11 Feb 2013

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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Georgia PKU Connect

To connect PKU families and individuals with the support and resources they need to manage PKU and live healthy, productive lives.

http://www.georgiapku.org

Last Updated: 19 Feb 2013

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Instituto Canguru - Support Group for Inborn Errors of Metabolism and Disorders

The Instituto Canguru - Support Group for Inborn Errors of Metabolism and Disorders is a non - profit civil society organization of public interest - whose main mission is to disseminate knowledge of inherited metabolic disorders among health professionals and society in general, proposing initiatives that facilitate the access of patients to information, diagnostic investigation and necessary treatments.

http://www.institutocanguru.org.br

Last Updated: 11 Oct 2012

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Intermountain PKU and Allied Disorders Association

The mission of the Intermountain PKU and Allied Disorders Association is to provide education and resources to individuals and families, to encourage research, and to increase public awareness of these conditions.

http://www.go-ipad.org

Last Updated: 2 Mar 2013

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Iowa PKU Foundation

The mission of the Iowa PKU Foundation is to help Iowan PKU families to secure adequate nutritional, educational, and emotional support to enhance their lives.

Last Updated: 18 Jun 2013

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Michigan PKU & Associated Disorders, Inc.

Our mission is to provide information, helpful hints, resources, and support for the Michigan PKU and metabolic population.

http://www.michigan-pku.org/

Last Updated: 15 Jan 2013

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Mid-Atlantic Connection for PKU and Allied Disorders

The mission of MACPAD is to enrich the lives of individuals and families of individuals with inherited metabolic disorders by disseminating information, providing supportive activities and encouraging the exchange of ideas.

http://www.macpad.org

Last Updated: 12 Dec 2012

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National PKU Alliance

The National PKU Alliance works to improve the lives of individuals and families with PKU and pursue a cure.

http://npkua.org/

Last Updated: 4 Oct 2012

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Phenylketonuria" for support, advocacy or research.

Logo
California Coalition for PKU and Allied Disorders

To Educate, Inform, Support and Inspire those with PKU and other Inborn Errors of Metabolism in and around California.

http://www.ccpkuad.org

Last Updated: 15 Jan 2013

View Details
Logo
Children's PKU Network

CPN is a non-profit organization dedicated to maintaining an agenda of public awareness, education and direct assistance through a variety of programs, to help people with PKU and other metabolic disorders reach their full potential.

http://www.pkunetwork.org

Last Updated: 11 Feb 2013

View Details
Logo
CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

View Details
Logo
Georgia PKU Connect

To connect PKU families and individuals with the support and resources they need to manage PKU and live healthy, productive lives.

http://www.georgiapku.org

Last Updated: 19 Feb 2013

View Details
Instituto Canguru - Support Group for Inborn Errors of Metabolism and Disorders

The Instituto Canguru - Support Group for Inborn Errors of Metabolism and Disorders is a non - profit civil society organization of public interest - whose main mission is to disseminate knowledge of inherited metabolic disorders among health professionals and society in general, proposing initiatives that facilitate the access of patients to information, diagnostic investigation and necessary treatments.

http://www.institutocanguru.org.br

Last Updated: 11 Oct 2012

View Details
Intermountain PKU and Allied Disorders Association

The mission of the Intermountain PKU and Allied Disorders Association is to provide education and resources to individuals and families, to encourage research, and to increase public awareness of these conditions.

http://www.go-ipad.org

Last Updated: 2 Mar 2013

View Details
Logo
Iowa PKU Foundation

The mission of the Iowa PKU Foundation is to help Iowan PKU families to secure adequate nutritional, educational, and emotional support to enhance their lives.

Last Updated: 18 Jun 2013

View Details
Logo
Michigan PKU & Associated Disorders, Inc.

Our mission is to provide information, helpful hints, resources, and support for the Michigan PKU and metabolic population.

http://www.michigan-pku.org/

Last Updated: 15 Jan 2013

View Details
Logo
Mid-Atlantic Connection for PKU and Allied Disorders

The mission of MACPAD is to enrich the lives of individuals and families of individuals with inherited metabolic disorders by disseminating information, providing supportive activities and encouraging the exchange of ideas.

http://www.macpad.org

Last Updated: 12 Dec 2012

View Details
National PKU Alliance

The National PKU Alliance works to improve the lives of individuals and families with PKU and pursue a cure.

http://npkua.org/

Last Updated: 4 Oct 2012

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
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General Resources

My PKU Binder

My PKU Binder is a comprehensive manual on effectively managing PKU on a daily basis. These materials include the newest and best thinking on PKU and offer hundreds of tips, advice and what to expect from birth to adulthood both practically and emoti

Updated 2 Mar 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Phenylketonuria" returned 318 free, full-text research articles on human participants. First 3 results:

Helicobacter pylori infection among children with Phenylketonuria.
 

Author(s): Yeşim Oztürk, Barış Erdur, Seçil Arslansoyu, Ramazan Soylar

Journal: Jpn. J. Infect. Dis.. 2013 ;66(5):433-5.

 

This study aimed to determine the frequency of Helicobacter pylori infections in children with phenylketonuria (PKU). Sixty-six children with PKU (35 boys, 31 girls; mean age, 8.2 ± 6.7 years) and 32 outpatient controls (15 boys, 17 girls; mean age, 9.6 ± 4.7 years) were studied. ...

Last Updated: 19 Sep 2013

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Diurnal variation of phenylalanine and tyrosine concentrations in adult patients with phenylketonuria: subcutaneous microdialysis is no adequate tool for the determination of amino acid concentrations.
 

Author(s): Sarah C Grünert, Corinna M Brichta, Andreas Krebs, Hans-Willi Clement, Reinhold Rauh, Christian Fleischhaker, Klaus Hennighausen, Jörn Oliver Sass, K Otfried Schwab

Journal:

 

Metabolic control and dietary management of patients with phenylketonuria (PKU) are based on single blood samples obtained at variable intervals. Sampling conditions are often not well-specified and intermittent variation of phenylalanine concentrations between two measurements remains ...

Last Updated: 22 May 2013

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Quality of life among parents of children with phenylketonuria (PKU).
 

Author(s): Astrid Fidika, Christel Salewski, Lutz Goldbeck

Journal:

 

Parents of children with chronic conditions are known to be at risk of impairment in their quality of life (QoL). Studies considering other chronic conditions proposed diverse factors to have an impact on the parent's QoL. So far, there has been little research on parents who have ...

Last Updated: 16 Apr 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Phenylketonuria" returned 26 free, full-text review articles on human participants. First 3 results:

Caring for children with phenylketonuria.
 

Author(s): Linda Casey

Journal: Can Fam Physician. 2013 Aug;59(8):837-40.

 

To provide an overview of the diagnosis and management of phenylketonuria (PKU) in childhood with an emphasis on aspects relevant to family physicians providing ongoing care.

Last Updated: 15 Aug 2013

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[Maternal phenylketonuria].
 

Author(s): János Bókay, Erika Kiss, Erika Simon, László Szőnyi

Journal: Orv Hetil. 2013 May;154(18):683-7.

 

Elevated maternal phenylalanine levels during pregnancy are teratogenic, and may result in embryo-foetopathy, which could lead to stillbirth, significant psychomotor handicaps and birth defects. This foetal damage is known as maternal phenylketonuria. Women of childbearing age with ...

Last Updated: 30 Apr 2013

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Nutritional treatment for inborn errors of metabolism: indications, regulations, and availability of medical foods and dietary supplements using phenylketonuria as an example.
 

Author(s): Kathryn M Camp, Michele A Lloyd-Puryear, Kathleen L Huntington

Journal: Mol. Genet. Metab.. 2012 Sep;107(1-2):3-9.

 

Medical foods and dietary supplements are used to treat rare inborn errors of metabolism (IEM) identified through state-based universal newborn screening. These products are regulated under Food and Drug Administration (FDA) food and dietary supplement statutes. The lack of harmony ...

Last Updated: 17 Sep 2012

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Liver Cell Transplant for Phenylketonuria
 

Status: Recruiting

Condition Summary: Phenylketonuria

 

Last Updated: 5 Jul 2012

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Moderate Intensity Exercise and Phenylketonuria
 

Status: Recruiting

Condition Summary: Phenylketonuria; PKU

 

Last Updated: 19 Jul 2013

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Sapropterin on Cognitive Abilities in Young Adults With Phenylketonuria
 

Status: Not yet recruiting

Condition Summary: Phenylketonuria

 

Last Updated: 31 Oct 2013

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