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A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).
Biomarker and diagnostic research for mitochondrial complex III deficiency has been reported in the published literature.
No clinical trials have been registered for mitochondrial complex III deficiency.
17 publications have been identified in PubMed for mitochondrial complex III deficiency. Research spans Case Report / Case Series (47%), Basic Science / Preclinical (29%), and Review / Meta-Analysis (18%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 8 | 47% |
Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 12:02 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Laboratory research
5 |
29% |
Research summaries | 3 | 18% |
Testing and diagnosis research | 1 | 6% |
Jacob P (2026). [PMID: 42250897](https://pubmed.ncbi.nlm.nih.gov/42250897/). *Mitochondrion*. [Basic Science / Preclinical]
Bindi V (2026). [PMID: 42163747](https://pubmed.ncbi.nlm.nih.gov/42163747/). *Curr Pediatr Rev*. [Case Report / Case Series]
Khan GS (2026). [PMID: 42060169](https://pubmed.ncbi.nlm.nih.gov/42060169/). *J Mol Neurosci*. [Review / Meta-Analysis]
Lan SC (2026). [PMID: 42091683](https://pubmed.ncbi.nlm.nih.gov/42091683/). *Neurol Sci*. [Case Report / Case Series]
Alghamdi M (2026). [PMID: 41818954](https://pubmed.ncbi.nlm.nih.gov/41818954/). *Molecular genetics and metabolism*. [Case Report / Case Series]
Dewan L (2025). [PMID: 41045959](https://pubmed.ncbi.nlm.nih.gov/41045959/). *Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus*. [Basic Science / Preclinical]
Liu JJ (2025). [PMID: 40423869](https://pubmed.ncbi.nlm.nih.gov/40423869/). *World journal of pediatrics : WJP*. [Case Report / Case Series]
Farsana MK (2025). [PMID: 40652486](https://pubmed.ncbi.nlm.nih.gov/40652486/). *Neurology India*. [Case Report / Case Series]
Stoolman JS (2025). [PMID: 39841842](https://pubmed.ncbi.nlm.nih.gov/39841842/). *Science advances*. [Basic Science / Preclinical]
Partipilo G (2025). [PMID: 39807859](https://pubmed.ncbi.nlm.nih.gov/39807859/). *Applied and environmental microbiology*. [Diagnostic / Biomarker]
AI-curated news mentioning mitochondrial complex III deficiency
Updated May 18, 2026
A recent case report expands the understanding of UQCRC2-related mitochondrial complex III deficiency, detailing clinical and genetic findings. This literature review highlights the need for further research into this rare condition.
New research expands the clinical spectrum of LYRM7-associated mitochondrial complex III deficiency, providing insights from recent cases and literature review. This study enhances understanding of the disease's manifestations and potential implications for patient management.
A study characterizes 10 patients from 5 unrelated Arab families with TTC19-related mitochondrial complex III deficiency, providing insights into the clinical and genetic aspects of this rare condition. The findings contribute to the understanding of this mitochondrial disorder and its implications for affected families.