Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria

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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 May 2024

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Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria?

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Advocacy Organizations

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.

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Clinical Trials

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