Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
A type of mitochondrial disease charcterized by macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene.
Biomarker and diagnostic research for mitochondrial complex I deficiency has been reported in the published literature.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for mitochondrial complex I deficiency.
143 publications have been identified in PubMed for mitochondrial complex I deficiency. Research spans Basic Science / Preclinical (62%), Case Report / Case Series (22%), and Gene Therapy / Novel Therapeutics (9%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 76 | 62% |
Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 1:40 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Patient case studies
27 |
22% |
New treatment approaches | 11 | 9% |
Disease patterns and progression | 5 | 4% |
Testing and diagnosis research | 2 | 2% |
Research summaries | 1 | 1% |
Piunova UE (2026). [PMID: 41702737](https://pubmed.ncbi.nlm.nih.gov/41702737/). *Biochemistry (Mosc)*. [Basic Science / Preclinical]
McManus MJ (2026). [PMID: 41704780](https://pubmed.ncbi.nlm.nih.gov/41704780/). *iScience*. [Gene Therapy / Novel Therapeutics]
Xiaowei L (2026). [PMID: 41952138](https://pubmed.ncbi.nlm.nih.gov/41952138/). *BMC Pediatr*. [Case Report / Case Series]
Al Masseri Z (2026). [PMID: 40913360](https://pubmed.ncbi.nlm.nih.gov/40913360/). *Am J Med Genet A*. [Case Report / Case Series]
Wei M (2026). [PMID: 41982465](https://pubmed.ncbi.nlm.nih.gov/41982465/). *Research (Wash D C)*. [Basic Science / Preclinical]
Xu H (2026). [PMID: 41087820](https://pubmed.ncbi.nlm.nih.gov/41087820/). *Biometals*. [Basic Science / Preclinical]
Maalej M (2026). [PMID: 41678003](https://pubmed.ncbi.nlm.nih.gov/41678003/). *Journal of molecular neuroscience : MN*. [Case Report / Case Series]
Qi W (2026). [PMID: 42002550](https://pubmed.ncbi.nlm.nih.gov/42002550/). *Signal Transduct Target Ther*. [Basic Science / Preclinical]
Sentell ZT (2026). [PMID: 40970474](https://pubmed.ncbi.nlm.nih.gov/40970474/). *Clinical genetics*. [Basic Science / Preclinical]
Nguyen PT (2026). [PMID: 41890053](https://pubmed.ncbi.nlm.nih.gov/41890053/). *bioRxiv*. [Basic Science / Preclinical]
AI-curated news mentioning mitochondrial complex I deficiency
Updated Jul 24, 2026
A case report highlights the use of immune modulatory therapy for treating severe dengue hemorrhagic fever in a patient with mitochondrial complex I deficiency. This study contributes to understanding potential therapeutic approaches for patients with rare mitochondrial disorders.