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fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Low muscle tone (hypotonia), Decreased activity of mitochondrial complex III, Increased circulating lactate concentration, and Decreased activity of mitochondrial complex I and others; and common findings: Bilateral tonic-clonic seizure, Encephalopathy, Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), and Concentric hypertrophic cardiomyopathy and others. 40 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	11	Bilateral tonic-clonic seizure, Encephalopathy, Dystonia
Muscles	6	Low muscle tone (hypotonia), Generalized hypotonia, Muscle weakness
Lab test results	5	Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Decreased activity of mitochondrial complex III, Increased circulating lactate concentration
Lungs and breathing	3	Respiratory failure, Dyspnea, Difficulty breathing (respiratory insufficiency)
Eyes	3	Damage to the optic nerve (optic atrophy), Visual impairment, Optic neuropathy
Heart and blood vessels	2	Concentric hypertrophic cardiomyopathy, Enlarged and weakened heart (dilated cardiomyopathy)
Digestive system	2	Enlarged liver (hepatomegaly), Feeding difficulties in infancy
Pregnancy and birth	2	Decreased fetal movement, Neonatal hypotonia
Growth and development	1	Intrauterine growth retardation

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 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3.

58 publications have been identified in PubMed for fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3. Research spans Basic Science / Preclinical (55%), Review / Meta-Analysis (25%), and Diagnostic / Biomarker (5%).

Research Type	Count	% of Total
Laboratory research	31	55%
Research summaries	14	25%
Testing and diagnosis research	3	5%
Clinical study results	3	5%
Disease patterns and progression	2	4%
New treatment approaches	2	4%
Patient case studies	1	2%

Recent Publications

Humbert A (2026). [PMID: 41795036](https://pubmed.ncbi.nlm.nih.gov/41795036/). *Diabetologia*. [Basic Science / Preclinical]
Nakashima D (2026). [PMID: 40603101](https://pubmed.ncbi.nlm.nih.gov/40603101/). *Internal medicine (Tokyo, Japan)*. [Case Report / Case Series]
Auburger GWJ (2026). [PMID: 41683920](https://pubmed.ncbi.nlm.nih.gov/41683920/). *International journal of molecular sciences*. [Review / Meta-Analysis]
Catinelli BB (2026). [PMID: 41308893](https://pubmed.ncbi.nlm.nih.gov/41308893/). *Biochimica et biophysica acta. Molecular basis of disease*. [Basic Science / Preclinical]
Terburgh K (2026). [PMID: 41532297](https://pubmed.ncbi.nlm.nih.gov/41532297/). *Journal of inherited metabolic disease*. [Basic Science / Preclinical]
Li X (2026). [PMID: 41605996](https://pubmed.ncbi.nlm.nih.gov/41605996/). *Scientific reports*. [Basic Science / Preclinical]
Ma C (2026). [PMID: 41876250](https://pubmed.ncbi.nlm.nih.gov/41876250/). *Zhonghua wei zhong bing ji jiu yi xue*. [Review / Meta-Analysis]
Villafan-Bernal JR (2026). [PMID: 41614925](https://pubmed.ncbi.nlm.nih.gov/41614925/). *Current issues in molecular biology*. [Review / Meta-Analysis]
Lin KY (2026). [PMID: 42009009](https://pubmed.ncbi.nlm.nih.gov/42009009/). *Lancet Neurol*. [Clinical Trial Publication]
Li C (2026). [PMID: 41292300](https://pubmed.ncbi.nlm.nih.gov/41292300/). *Journal of diabetes investigation*. [Basic Science / Preclinical]

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fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team