Features include always present findings: Global developmental delay, Increased circulating lactate concentration, Generalized hypotonia, and Increased CSF lactate and others; and common findings: Skeletal muscle atrophy, Brain shrinkage (cerebral atrophy), Vomiting, and Seizure and others.

NDUFB8 encodes NADH:ubiquinone oxidoreductase subunit B8 (186 aa). Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Highest expression in Brain Frontal Cortex BA9 (305.0 TPM) and Brain Anterior cingulate cortex BA24 (273.1 TPM).

Mitochondrial complex I deficiency, nuclear type 32 is associated with mutations in the NDUFB8 gene on chromosome 10.

NDUFB8 is classified as a druggable target (Enzyme category) with score 0.3.

Genetic testing for NDUFB8 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 6 always present features, 9 common features.

No clinical trials have been registered for mitochondrial complex I deficiency, nuclear type 32.

4 publications have been identified in PubMed for mitochondrial complex I deficiency, nuclear type 32. Research spans Basic Science / Preclinical (100%).

Recent Publications

• Jentus MM (2026). [PMID: 41814071](https://pubmed.ncbi.nlm.nih.gov/41814071/). *Pituitary*. [Basic Science / Preclinical]

• Chen R (2025). [PMID: 40752580](https://pubmed.ncbi.nlm.nih.gov/40752580/). *J Biol Chem*. [Basic Science / Preclinical]

• Smith LA (2025). [PMID: 40445405](https://pubmed.ncbi.nlm.nih.gov/40445405/). *Acta Neuropathol*. [Basic Science / Preclinical]

• Rouzier C (2024). [PMID: 38703036](https://pubmed.ncbi.nlm.nih.gov/38703036/). *Ann Clin Transl Neurol*. [Basic Science / Preclinical]