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hereditary xanthinuria - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary xanthinuria

MONDO:0018106

Also known as:classic xanthinuriaxanthic urolithiasisxanthine dehydrogenase deficiency

Find Clinical TrialsTrials

Overview

Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis.

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (9 articles)

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.

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

9 publications have been identified in PubMed for hereditary xanthinuria. Research spans Basic Science / Preclinical (33%), Case Report / Case Series (22%), and Review / Meta-Analysis (11%).

Recent Publications

Kim MM (2026). [PMID: 41641807](https://pubmed.ncbi.nlm.nih.gov/41641807/). *J Feline Med Surg*. [Review / Meta-Analysis]
Cho SK (2025). [PMID: 40707723](https://pubmed.ncbi.nlm.nih.gov/40707723/). *European journal of pediatrics*. [Epidemiology / Natural History]
Snoozy J (2025). [PMID: 40991662](https://pubmed.ncbi.nlm.nih.gov/40991662/). *PLoS biology*. [Basic Science / Preclinical]
Urasaki M (2025). [PMID: 41338991](https://pubmed.ncbi.nlm.nih.gov/41338991/). *Exp Anim*. [Basic Science / Preclinical]
Terada K (2025). [PMID: 39863758](https://pubmed.ncbi.nlm.nih.gov/39863758/). *Scientific reports*. [Gene Therapy / Novel Therapeutics]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 2:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:3467

GARD

Genetic and Rare Diseases Info Center

GARD:16628

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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hereditary xanthinuria

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Subtypes

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Questions for Your Care Team

Questions for Your Care Team