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inborn disorder of ornithine, proline and hydroxyproline metabolism - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

inborn disorder of ornithine, proline and hydroxyproline metabolism

MONDO:0800156

Overview

A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of ornithine, proline and/or hydroxyproline.

ResearchLimited published research (2 articles)

Diagnosis

Biomarker and diagnostic research for inborn disorder of ornithine, proline and hydroxyproline metabolism has been reported in the published literature.

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 inborn disorder of ornithine, proline and hydroxyproline metabolism.

2 publications have been identified in PubMed for inborn disorder of ornithine, proline and hydroxyproline metabolism. Research spans Diagnostic / Biomarker (50%) and Epidemiology / Natural History (50%).

Recent Publications

Spano J (2025). [PMID: 40603951](https://pubmed.ncbi.nlm.nih.gov/40603951/). *Scientific reports*. [Diagnostic / Biomarker]
Guo Y (2024). [PMID: 38851765](https://pubmed.ncbi.nlm.nih.gov/38851765/). *Orphanet journal of rare diseases*. [Epidemiology / Natural History]

Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 2:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

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inborn disorder of ornithine, proline and hydroxyproline metabolism

Overview

Diagnosis

Research Landscape

Recent Publications

Medical References

Related Diseases

Questions for Your Care Team

Questions for Your Care Team