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.

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.

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

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.

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.

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.

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.

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.

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.

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
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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

View Details
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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

View Details
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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

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

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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

View Details
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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

View Details
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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

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 341 free, full-text research articles on human participants. First 3 results:

Central precocious puberty in a 3 year-old girl with Phenylketonuria: a rare association?
 

Author(s): Laura Lucaccioni, Bernd C Schwahn, Malcolm Donaldson, Claudio Giacomozzi

Journal:

 

Central precocious puberty (CPP) and phenylketonuria (PKU) are two rare conditions, the latter being the rarer. To date, only one case featuring both these conditions has been reported, and hyperphenylalaninemia was assumed triggering CPP.

Last Updated: 3 Jun 2014

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Mutation spectrum of six genes in Chinese phenylketonuria patients obtained through next-generation sequencing.
 

Author(s): Ying Gu, Kangmo Lu, Guanghui Yang, Zhong Cen, Li Yu, Lin Lin, Jing Hao, Zhigang Yang, Jiabao Peng, Shujian Cui, Jian Huang

Journal:

 

The identification of gene variants plays an important role in the diagnosis of genetic diseases.

Last Updated: 7 Apr 2014

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Sapropterin dihydrochloride use in pregnant women with phenylketonuria: an interim report of the PKU MOMS sub-registry.
 

Author(s): Dorothy K Grange, Richard E Hillman, Barbara K Burton, Shoji Yano, Jerry Vockley, Chin-To Fong, Joellen Hunt, John J Mahoney, Jessica L Cohen-Pfeffer, ,

Journal: Mol. Genet. Metab.. 2014 May;112(1):9-16.

 

For pregnant women with phenylketonuria (PKU), maintaining blood phenylalanine (Phe)<360μmol/L is critical due to the toxicity of elevated Phe to the fetus. Sapropterin dihydrochloride (sapropterin) lowers blood Phe in tetrahydrobiopterin (BH4) responsive patients with PKU, in conjunction ...

Last Updated: 30 Apr 2014

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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 27 free, full-text review articles on human participants. First 3 results:

Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes.
 

Author(s): Maureen Cleary, Friedrich Trefz, Ania C Muntau, François Feillet, Francjan J van Spronsen, Alberto Burlina, Amaya Bélanger-Quintana, Maria Giżewska, Christoph Gasteyger, Esther Bettiol, Nenad Blau, Anita MacDonald

Journal: Mol. Genet. Metab.. 2013 Dec;110(4):418-23.

 

Fluctuations in blood phenylalanine concentrations may be an important determinant of intellectual outcome in patients with early and continuously treated phenylketonuria (PKU). This review evaluates the studies on phenylalanine fluctuations, factors affecting fluctuations, and if ...

Last Updated: 29 Nov 2013

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

Response to Phenylketonuria to Tetrahydrobiopterin (BH4)
 

Status: Recruiting

Condition Summary: Phenylketonuria

 

Last Updated: 15 Jan 2009

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Liver Cell Transplant for Phenylketonuria
 

Status: Recruiting

Condition Summary: Phenylketonuria

 

Last Updated: 24 Sep 2014

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PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry
 

Status: Recruiting

Condition Summary: Phenylketonuria; Hyperphenylalaninaemia

 

Last Updated: 15 Aug 2014

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