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

Rare Disease

inborn disorder of histidine metabolism

MONDO:0019228

Also known as:disorder of histidine metabolic processdisorder of histidine metabolismdisturbance of histidine metabolism

Overview

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

Diagnosis

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

139 publications have been identified in PubMed for inborn disorder of histidine metabolism. Research spans Basic Science / Preclinical (61%), Review / Meta-Analysis (22%), and Gene Therapy / Novel Therapeutics (5%).

Research Type	Count	% of Total
Laboratory research	85	61%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:79181

GARD

Genetic and Rare Diseases Info Center

GARD:18959

Questions for Your Care Team

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inborn disorder of histidine metabolism

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications