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.

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.

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.

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.

Last Updated: 12 May 2015

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.

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.

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.

Last Updated: 29 May 2015

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.

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.

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.

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

Last Updated: 22 Apr 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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
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: 29 May 2015

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: 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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

Go To URL
 
 
Top

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

Ten years of specialized adult care for phenylketonuria - a single-centre experience.
 

Author(s): Ulrike Mütze, Alena Gerlinde Thiele, Christoph Baerwald, Uta Ceglarek, Wieland Kiess, Skadi Beblo

Journal:

 

Specialized adult care of phenylketonuria (PKU) patients is of increasing importance. Adult outpatient clinics for inherited errors of metabolism can help to achieve this task, but experience is limited. Ten years after establishment of a coordinated transition process and specialised ...

Last Updated: 24 Mar 2016

Go To URL
The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?
 

Author(s): Karen Anjema, Floris C Hofstede, Annet M Bosch, M Estela Rubio-Gozalbo, Maaike C de Vries, Carolien C A Boelen, Margreet van Rijn, Francjan J van Spronsen

Journal:

 

It is unknown whether the neonatal tetrahydrobiopterin (BH4) loading test is adequate to diagnose long-term BH4 responsiveness in PKU. Therefore we compared the predictive value of the neonatal (test I) versus the 48-h BH4 loading test (test II) and long-term BH4 responsiveness.

Last Updated: 29 Jan 2016

Go To URL
Special low protein foods for phenylketonuria: availability in Europe and an examination of their nutritional profile.
 

Author(s): Maria João Pena, Manuela Ferreira Almeida, Esther van Dam, Kirsten Ahring, Amaya Bélanger-Quintana, Katharina Dokoupil, Hulya Gokmen-Ozel, Anna Maria Lammardo, Anita MacDonald, Martine Robert, Júlio César Rocha

Journal:

 

Special low protein foods (SLPF) are essential in the nutritional management of patients with phenylketonuria (PKU). The study objectives were to: 1) identify the number of SLPF available for use in eight European countries and Turkey and 2) analyse the nutritional composition of ...

Last Updated: 23 Dec 2015

Go To URL

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

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

Go To URL
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

Go To URL
A systematic review of bone mineral density and fractures in phenylketonuria.
 

Author(s): Karen E Hansen, Denise Ney

Journal: J. Inherit. Metab. Dis.. 2014 Nov;37(6):875-80.

 

Our objective was to systematically review and analyze published data on bone mineral density (BMD) and fracture rates in patients with phenylketonuria (PKU), and relationships between BMD and phenylalanine levels.

Last Updated: 23 Oct 2014

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
Top

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

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

Status: Recruiting

Condition Summary: Phenylketonuria; Hyperphenylalaninaemia

 

Last Updated: 5 May 2016

Go to URL
Simplified Diet Approach in Phenylketonuria
 

Status: Not yet recruiting

Condition Summary: Phenylketonuria

 

Last Updated: 18 Sep 2015

Go to URL