Features include always present findings: Focal T2 hyperintense basal ganglia lesion, Intellectual disability, and Cytochrome C oxidase-negative muscle fibers; and common findings: Perseverative thought, Dysarthria, Abnormal pyramidal sign, and Damage to the optic nerve (optic atrophy). 13 total HPO annotations.

TACO1 function has not been fully characterized.

Mitochondrial complex IV deficiency, nuclear type 8 is associated with mutations in the TACO1 gene on chromosome 17.

Genetic testing for TACO1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 3 always present features, 4 common features.

No clinical trials have been registered for mitochondrial complex IV deficiency, nuclear type 8.

3 publications have been identified in PubMed for mitochondrial complex IV deficiency, nuclear type 8. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

• Kaiyrzhanov R (2025). [PMID: 39963288](https://pubmed.ncbi.nlm.nih.gov/39963288/). *Brain communications*. [Case Report / Case Series]

• Deng M (2025). [PMID: 39656941](https://pubmed.ncbi.nlm.nih.gov/39656941/). *Advanced science (Weinheim, Baden-Wurttemberg, Germany)*. [Basic Science / Preclinical]

• Hughes LA (2024). [PMID: 38779771](https://pubmed.ncbi.nlm.nih.gov/38779771/). *Human molecular genetics*. [Review / Meta-Analysis]