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severe phosphoribosylpyrophosphate synthetase superactivity - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

severe phosphoribosylpyrophosphate synthetase superactivity

MONDO:0018464

Also known as:severe PRPP synthetase superactivitysevere PRPS1 superactivity

Overview

Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies.

ResearchLimited published research (3 articles)

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 severe phosphoribosylpyrophosphate synthetase superactivity.

3 publications have been identified in PubMed for severe phosphoribosylpyrophosphate synthetase superactivity. Research spans Basic Science / Preclinical (67%) and Epidemiology / Natural History (33%).

Recent Publications

Pan W (2025). [PMID: 41243244](https://pubmed.ncbi.nlm.nih.gov/41243244/). *Med Sci Monit*. [Epidemiology / Natural History]
O'Neill AG (2025). [PMID: 40654686](https://pubmed.ncbi.nlm.nih.gov/40654686/). *bioRxiv*. [Basic Science / Preclinical]
O'Neill AG (2025). [PMID: 41343675](https://pubmed.ncbi.nlm.nih.gov/41343675/). *Proc Natl Acad Sci U S A*. [Basic Science / Preclinical]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 11:13 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:411543

GARD

Genetic and Rare Diseases Info Center

GARD:17682

Questions for Your Care Team

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severe phosphoribosylpyrophosphate synthetase superactivity

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team