Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria

MONDO:0017389

Tetrahydrobiopterin-responsive hyperphenylalaninemia/ phenylketonuria (BH4-responsive hyperphenylalaninemia/ phenylketonuria) is 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 and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase.

Also known as: BH4-responsive HPA/PKU, BH4-responsive hyperphenylalaninemia/phenylketonuria, tetrahydrobiopterin-responsive HPA/PKU

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Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Phenylketonuria (55) Inborn errors of metabolism (45) Human disease (14) Autosomal recessive disease (4) Inborn disorder of amino acid metabolism (4) Disease of genetic or genomic mechanism (2) Amino acid metabolism disease (1)

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