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: 29 May 2015

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Cochrane Collaboration

The Cochrane Collaboration is an international network of healthcare professionals, researchers and consumers preparing, maintaining, and disseminating high quality systematic reviews of randomised control trials. This review group focuses on genetic disorders such as cystic fibrosis (CF), haemoglobinopathies, coagulopathies and inborn errors of metabolism.

Last Updated: 12 May 2015

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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: 29 May 2015

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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: 29 May 2015

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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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: 29 May 2015

View Details
Cochrane Collaboration

The Cochrane Collaboration is an international network of healthcare professionals, researchers and consumers preparing, maintaining, and disseminating high quality systematic reviews of randomised control trials. This review group focuses on genetic disorders such as cystic fibrosis (CF), haemoglobinopathies, coagulopathies and inborn errors of metabolism.

http://cfgd.cochrane.org

Last Updated: 12 May 2015

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

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: 29 May 2015

View Details
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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
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: 29 May 2015

View Details
Logo
Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

View Details

 

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

Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.
 

Author(s): Ning Liu, Qiuying Huang, Qingge Li, Dehua Zhao, Xiaole Li, Lixia Cui, Ying Bai, Yin Feng, Xiangdong Kong

Journal:

 

Phenylketonuria (PKU), which primarily results from a deficiency of phenylalanine hydroxylase (PAH), is one of the most common inherited inborn errors of metabolism that impairs postnatal cognitive development. The incidence of various PAH variations differs by race and ethnicity. ...

Last Updated: 6 Oct 2017

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Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand.
 

Author(s): Pongsathorn Chaiyasap, Chupong Ittiwut, Chalurmpon Srichomthong, Apiruk Sangsin, Kanya Suphapeetiporn, Vorasuk Shotelersuk

Journal:

 

Hyperphenylalaninemia (HPA) can be classified into phenylketonuria (PKU) which is caused by mutations in the phenylalanine hydroxylase (PAH) gene, and BH4 deficiency caused by alterations in genes involved in tetrahydrobiopterin (BH4) biosynthesis pathway. Dietary restriction of phenylalanine ...

Last Updated: 16 Sep 2017

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Development of the US English version of the phenylketonuria - quality of life (PKU-QOL) questionnaire.
 

Author(s): Elaina Jurecki, Amy Cunningham, Vanessa Birardi, Grégory Gagol, Catherine Acquadro

Journal:

 

Phenylketonuria (PKU) is a rare genetic disorder caused by a defect in the metabolism of phenylalanine (PHE) resulting in elevated blood and brain PHE levels, and leading to cognitive, emotional, and psychosocial problems. The phenylketonuria - quality of life (PKU-QOL) questionnaire ...

Last Updated: 9 Mar 2017

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

Systematic Review and Meta-Analysis of Neuropsychiatric Symptoms and Executive Functioning in Adults With Phenylketonuria.
 

Author(s): Deborah A Bilder, J Kay Noel, Erin R Baker, William Irish, Yinpu Chen, Markus J Merilainen, Suyash Prasad, Barbara J Winslow

Journal: Dev Neuropsychol. ;41(4):245-260.

 

This systematic review and meta-analysis (MA) investigates the impact of elevated blood phenylalanine (Phe) on neuropsychiatric symptoms in adults with phenylketonuria (PKU). The meta-analysis of PKU is challenging because high-quality evidence is lacking due to the limited number ...

Last Updated: 2 Nov 2016

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Weight Management in Phenylketonuria: What Should Be Monitored.
 

Author(s): Julio César Rocha, Margreet van Rijn, Esther van Dam, Kirsten Ahring, Amaya Bélanger-Quintana, Katharina Dokoupil, Hulya Gokmen Ozel, Anna Maria Lammardo, Martine Robert, Carina Heidenborg, Anita MacDonald

Journal: Ann. Nutr. Metab.. 2016 ;68(1):60-5.

 

Severe intellectual disability and growth impairment have been overcome by the success of early and continuous treatment of patients with phenylketonuria (PKU). However, there are some reports of obesity, particularly in women, suggesting that this may be an important comorbidity ...

Last Updated: 26 Nov 2015

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Bone health in phenylketonuria: a systematic review and meta-analysis.
 

Author(s): Serwet Demirdas, Katie E Coakley, Peter H Bisschop, Carla E M Hollak, Annet M Bosch, Rani H Singh

Journal:

 

Patients with Phenylketonuria (PKU) reportedly have decreased bone mineral density (BMD). The primary aim of this study was to perform a systematic review and meta-analysis to determine the extent and significance of low BMD in early treated patients with PKU. Secondary aims were ...

Last Updated: 18 Apr 2015

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Clinical Trial Information This information is provided by ClinicalTrials.gov

MRI Spectroscopy and Neuropsychological Functioning in Phenylketonuria
 

Status: Recruiting

Condition Summary: Phenylketonuria

 

Last Updated: 12 Jul 2017

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Body Composition, Energy Intake and Expenditure in People With Phenylketonuria
 

Status: Recruiting

Condition Summary: Phenylketonuria (PKU)

 

Last Updated: 12 Oct 2017

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

Status: Recruiting

Condition Summary: Phenylketonuria; Hyperphenylalaninaemia

 

Last Updated: 6 Jun 2017

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