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tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia

MONDO:0850519

Overview

An amino acid metabolic disorder that are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has material basis in autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4.

ResearchLimited published research (2 articles)

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 (BH4)-deficient hyperphenylalaninemia.

2 publications have been identified in PubMed for tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia. Research spans Review / Meta-Analysis (50%) and Epidemiology / Natural History (50%).

Recent Publications

Yahia S (2025). [PMID: 41318575](https://pubmed.ncbi.nlm.nih.gov/41318575/). *Sci Rep*. [Epidemiology / Natural History]
Rahman AFMT (2025). [PMID: 39858496](https://pubmed.ncbi.nlm.nih.gov/39858496/). *Biomolecules*. [Review / Meta-Analysis]

Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 3:09 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

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tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia

Overview

Research Landscape

Recent Publications

Medical References

Related Diseases

Questions for Your Care Team

Questions for Your Care Team