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

Rare Disease

inborn disorder of proline metabolism

MONDO:0017355

Also known as:disorder of proline metabolisminborn error of proline metabolic processinborn proline metabolic process disorder

Overview

An inherited metabolic disease that is has its basis in the disruption of proline metabolic process.

Diagnosis

Biomarker and diagnostic research for inborn disorder of proline 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 proline metabolism.

183 publications have been identified in PubMed for inborn disorder of proline metabolism. Research spans Basic Science / Preclinical (66%), Epidemiology / Natural History (11%), and Review / Meta-Analysis (10%).

Research Type	Count	% of Total
Laboratory research	120	66%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 2:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:289866

GARD

Genetic and Rare Diseases Info Center

GARD:21157

Questions for Your Care Team

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inborn disorder of proline metabolism

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications