Features include always present findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Aminoaciduria, Hypoalbuminemia, and Prolonged prothrombin time and others; and very common findings: Seizure. 30 total HPO annotations.

PET100 function has not been fully characterized.

Mitochondrial complex IV deficiency, nuclear type 12 is associated with mutations in the PET100 gene on chromosome 19.

Genetic testing for PET100 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for mitochondrial complex IV deficiency, nuclear type 12 has been reported in the published literature.

Phenotype severity distribution: 13 always present features, 1 very common feature, 1 common feature.

No clinical trials have been registered for mitochondrial complex IV deficiency, nuclear type 12.

6 publications have been identified in PubMed for mitochondrial complex IV deficiency, nuclear type 12. Research spans Basic Science / Preclinical (67%), Diagnostic / Biomarker (17%), and Review / Meta-Analysis (17%).

Recent Publications

• Čunátová K (2026). [PMID: 41419202](https://pubmed.ncbi.nlm.nih.gov/41419202/). *J Biol Chem*. [Basic Science / Preclinical]

• Al Khudari R (2025). [PMID: 40336053](https://pubmed.ncbi.nlm.nih.gov/40336053/). *Orphanet J Rare Dis*. [Diagnostic / Biomarker]

• Smith TB (2025). [PMID: 39701103](https://pubmed.ncbi.nlm.nih.gov/39701103/). *Am J Hum Genet*. [Basic Science / Preclinical]

• Shao L (2024). [PMID: 39702527](https://pubmed.ncbi.nlm.nih.gov/39702527/). *Cell Death Dis*. [Basic Science / Preclinical]

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