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encephalopathy due to mitochondrial and peroxisomal fission defect - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

encephalopathy due to mitochondrial and peroxisomal fission defect

MONDO:0054865

Also known as:encephalopathy due to defective mitochondrial and peroxisomal fission

Overview

A rare mitochondrial disease characterized by a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy, among others. Age of onset and disease severity are also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy, and white matter abnormalities.

ResearchLimited published research (6 articles)

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 encephalopathy due to mitochondrial and peroxisomal fission defect.

6 publications have been identified in PubMed for encephalopathy due to mitochondrial and peroxisomal fission defect. Research spans Basic Science / Preclinical (50%), Other (17%), and Review / Meta-Analysis (17%).

Recent Publications

Liu TT (2026). [PMID: 41765652](https://pubmed.ncbi.nlm.nih.gov/41765652/). *Zhonghua Fu Chan Ke Za Zhi*. [Other]
Wang YX (2025). [PMID: 40540175](https://pubmed.ncbi.nlm.nih.gov/40540175/). *Mol Neurobiol*. [Basic Science / Preclinical]
Wang Y (2025). [PMID: 40125832](https://pubmed.ncbi.nlm.nih.gov/40125832/). *CNS Neurosci Ther*. [Basic Science / Preclinical]
Magistrati M (2025). [PMID: 39859560](https://pubmed.ncbi.nlm.nih.gov/39859560/). *Int J Mol Sci*. [Review / Meta-Analysis]
Yang L (2025). [PMID: 41296099](https://pubmed.ncbi.nlm.nih.gov/41296099/). *Mol Neurobiol*. [Basic Science / Preclinical]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:527276

GARD

Genetic and Rare Diseases Info Center

GARD:22192

Questions for Your Care Team

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encephalopathy due to mitochondrial and peroxisomal fission defect

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team