tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
Findings
No curated finding names tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0017389), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PAHHGNC:8582
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
- Also called
- BH4-responsive HPA/PKUBH4-responsive hyperphenylalaninemia/phenylketonuriatetrahydrobiopterin-responsive HPA/PKU