Features include always present findings: Increased CSF lactate, Decreased activity of mitochondrial complex I, and Optic disc pallor; and very common findings: Lactic acidosis. 16 total HPO annotations.

NDUFAF3 encodes NADH:ubiquinone oxidoreductase complex assembly factor 3 (184 aa). Essential factor for the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) Highest expression in Testis (486.2 TPM) and Pituitary (112.6 TPM).

Mitochondrial complex I deficiency, nuclear type 18 is associated with mutations in the NDUFAF3 gene on chromosome 3.

The NDUFAF3 protein participates in Intermediate 2 (-NDUFAF3,4,7,TIMMDC1) and Intermediate 1 (-NDUFAF3,4,7, TIMMDC1) pathways.

NDUFAF3 is classified as a druggable target with score 0.3.

Genetic testing for NDUFAF3 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 3 always present features, 1 very common feature, 2 common features.

No clinical trials have been registered for mitochondrial complex I deficiency, nuclear type 18.

3 publications have been identified in PubMed for mitochondrial complex I deficiency, nuclear type 18. Research spans Other (33%), Review / Meta-Analysis (33%), and Case Report / Case Series (33%).

Recent Publications

• Kaiyrzhanov R (2025). [PMID: 39963288](https://pubmed.ncbi.nlm.nih.gov/39963288/). *Brain Commun*. [Other]

• Alhamad AR (2025). [PMID: 40709164](https://pubmed.ncbi.nlm.nih.gov/40709164/). *Cureus*. [Case Report / Case Series]

• Zhang X (2024). [PMID: 39850733](https://pubmed.ncbi.nlm.nih.gov/39850733/). *Front Neurol*. [Review / Meta-Analysis]