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mitochondrial respiratory chain complex deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial respiratory chain complex deficiency

MONDO:0000066

Also known as:isolated oxidative phosphorylation complex disordermitochondrial complex deficiency

Overview

A mitochondrial energy metabolism disorder where respiratory complex (I–V) is dysfunctional, typically due to mutations in genes encoding that specific complex’s proteins or assembly factors.

OnsetNEONATAL

Diagnosis

Biomarker and diagnostic research for mitochondrial respiratory chain complex deficiency 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 mitochondrial respiratory chain complex deficiency.

44 publications have been identified in PubMed for mitochondrial respiratory chain complex deficiency. Research spans Basic Science / Preclinical (73%), Gene Therapy / Novel Therapeutics (14%), and Diagnostic / Biomarker (5%).

Research Type	Count	% of Total
Laboratory research	32	73%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 8:40 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:254846

Questions for Your Care Team

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mitochondrial respiratory chain complex deficiency

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications