Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
Synonyms: BH4-responsive HPA/PKU | BH4-responsive hyperphenylalaninemia/phenylketonuria | Tetrahydrobiopterin-responsive HPA/PKU
A form of phenylketonuria (PKU) an inborn error of amino acid metabolism characterized by mild to moderate symptoms of PKU including impaired cognitive function seizures and behavioral and developmental disorders and a marked reduction of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4) an essential cofactor of phenylalanine hydroxylase.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Canadian PKU and Allied Disorders (CanPKU)
To help those who live with rare diseases that are manage by a restricted protein medical diet bringing education, awareness and advocacy to the community
FamilieSCN2A Foundation
"Families" is part of our name for a reason. Rare and devastating, SCN2A-related disorders affect the entire family. Our VISION is a world with effective treatments and cures for all SCN2A-related disorders. Our MISSION is to accelerate research, build community and advocate to improve the lives of those affected by SCN2A-related disorders around the world.
Genetic Epilepsy Team Australia
Collaboration of research and care
Intermountain PKU and Allied Disorders. Association
The Intermountain PKU and Allied Disorders Association is dedicated to providing support and services to individuals and families with PKU and allied disorders. Our mission is to provide education and resources to individuals and families, to encourage research, and to increase public awareness of these rare conditions.
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
Moonshots for Unicorns
Curing single-gene disorders
National PKU Alliance
The National PKU Alliance works to improve the lives of families and individuals associated with PKU through research, support, education and advocacy, while ultimately seeking a cure.
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
flok Health (formerly National PKU News)
National PKU News provides resources and support for individuals, families, and clinicians managing PKU (Phenylketonuria) and other inborn errors of metabolism. Our mission is to leverage innovation, insight, and research to improve the health, well-being, and daily lives of those with PKU and other IEMs.
Clinical Trials
For a list of clinical trials in this disease area, please click here.