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dihydropteridine reductase deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Diminished tissue dihydropteridine reductase activity; and very common findings: Microcephaly, Difficulty swallowing (dysphagia), Global developmental delay, and Intellectual disability. 18 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Difficulty swallowing (dysphagia), Dystonia, Seizure
Head and neck	1	Microcephaly
Digestive system	1	Difficulty swallowing (dysphagia)
Muscles	1	Low muscle tone (hypotonia)
Metabolism	1	Recurrent fever

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.

1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

116 publications have been identified in PubMed for dihydropteridine reductase deficiency. Research spans Basic Science / Preclinical (47%), Epidemiology / Natural History (21%), and Review / Meta-Analysis (13%).

Research Type	Count	% of Total
Laboratory research	54	47%
Disease patterns and progression	24	21%
Research summaries	15	13%
New treatment approaches	7	6%
Testing and diagnosis research	6	5%
Clinical study results	6	5%
Patient case studies	4	3%

Recent Publications

Huang LX (2026). [PMID: 41767410](https://pubmed.ncbi.nlm.nih.gov/41767410/). *Biomed Res Int*. [Basic Science / Preclinical]
Wang S (2026). [PMID: 42000180](https://pubmed.ncbi.nlm.nih.gov/42000180/). *Water Res*. [Clinical Trial Publication]
Li H (2026). [PMID: 41562318](https://pubmed.ncbi.nlm.nih.gov/41562318/). *Physical chemistry chemical physics : PCCP*. [Basic Science / Preclinical]
Gong L (2026). [PMID: 41980429](https://pubmed.ncbi.nlm.nih.gov/41980429/). *Maturitas*. [Review / Meta-Analysis]
Liu Y (2026). [PMID: 41806557](https://pubmed.ncbi.nlm.nih.gov/41806557/). *Molecular immunology*. [Review / Meta-Analysis]
Sun S (2026). [PMID: 41547438](https://pubmed.ncbi.nlm.nih.gov/41547438/). *Diabetes Metab*. [Diagnostic / Biomarker]
Mao C (2026). [PMID: 41771883](https://pubmed.ncbi.nlm.nih.gov/41771883/). *Nat Commun*. [Basic Science / Preclinical]
Zhang J (2026). [PMID: 40889047](https://pubmed.ncbi.nlm.nih.gov/40889047/). *Science China. Life sciences*. [Diagnostic / Biomarker]
Noriega-Prieto JA (2026). [PMID: 41469443](https://pubmed.ncbi.nlm.nih.gov/41469443/). *Nature neuroscience*. [Basic Science / Preclinical]
Yi H (2026). [PMID: 41477926](https://pubmed.ncbi.nlm.nih.gov/41477926/). *Eur J Surg Oncol*. [Epidemiology / Natural History]

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dihydropteridine reductase deficiency

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dihydropteridine reductase deficiency

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team