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mitochondrial complex IV deficiency, nuclear-type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex IV deficiency, nuclear-type

MONDO:0033885

Also known as:Cytochrome C Oxidase Deficiencycytochrome-c oxidase deficiency diseaseisolated COX deficiency

Overview

A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis.

OnsetINFANTILE, NEONATAL, CHILDHOOD, JUVENILE, CONGENITAL

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 complex IV deficiency, nuclear-type.

42 publications have been identified in PubMed for mitochondrial complex IV deficiency, nuclear-type. Research spans Basic Science / Preclinical (62%), Case Report / Case Series (21%), and Review / Meta-Analysis (14%).

Research Type	Count	% of Total
Laboratory research	26	62%

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 12:12 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:254905

Questions for Your Care Team

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mitochondrial complex IV deficiency, nuclear-type

Overview

Research Landscape

Medical References

External Resources

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications