Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria

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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 October 2023.

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Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria?

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Advocacy Organizations

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.

PO”UAP PKU “Special children”

Help for patients and families with phenylketonuria

FamilieSCN2A Foundation

We are an organization created by parents of children diagnosed with rare forms of Epilepsy and Autism as a result of a change in the SCN2A gene. Our vision is to find effective treatments and a cure for SCN2A related disorders. Our mission is to improve the lives of those affected by SCN2A related disorders through research, public awareness, family support and patient advocacy.

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.