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tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria

MONDO:0017389

Also known as:BH4-responsive HPA/PKUBH4-responsive hyperphenylalaninemia/phenylketonuriatetrahydrobiopterin-responsive HPA/PKU

Overview

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.

ResearchLimited published research (5 articles)

Diagnosis

Biomarker and diagnostic research for tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria has been reported in the published literature.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria.

5 publications have been identified in PubMed for tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria. Research spans Other (20%), Diagnostic / Biomarker (20%), and Review / Meta-Analysis (20%).

Recent Publications

Chandani HK (2025). [PMID: 41377231](https://pubmed.ncbi.nlm.nih.gov/41377231/). *Ann Med Surg (Lond)*. [Other]
Lo Bianco M (2025). [PMID: 40944280](https://pubmed.ncbi.nlm.nih.gov/40944280/). *Nutrients*. [Case Report / Case Series]
Williams RA (2025). [PMID: 40272408](https://pubmed.ncbi.nlm.nih.gov/40272408/). *Expert Opin Pharmacother*. [Review / Meta-Analysis]
Öktem RM (2024). [PMID: 38841329](https://pubmed.ncbi.nlm.nih.gov/38841329/). *Mol Syndromol*. [Diagnostic / Biomarker]
Pinto A (2024). [PMID: 39275225](https://pubmed.ncbi.nlm.nih.gov/39275225/). *Nutrients*. [Epidemiology / Natural History]

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 11:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:293284

GARD

Genetic and Rare Diseases Info Center

GARD:21166

Questions for Your Care Team

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tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria

Overview

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team