Features include always present findings: Lethargy, Increased urine alpha-ketoglutarate concentration, Decreased activity of mitochondrial respiratory chain, and Alpha-aminoadipic aciduria and others; and very common findings: Failure to thrive and Hyperglycinemia. 31 total HPO annotations.

NFU1 encodes NFU1 iron-sulfur cluster scaffold (254 aa). Iron-sulfur cluster scaffold protein which can assemble [4Fe-4S] clusters and deliver them to target proteins Highest expression in Artery Tibial (39.9 TPM) and Adipose Subcutaneous (36.7 TPM).

Multiple mitochondrial dysfunctions syndrome 1 is associated with mutations in the NFU1 gene on chromosome 2.

The NFU1 protein participates in LIAS synthesizes lipoyl-GCSH, FXN:NFS1:ISD11:ISCU assembles 2Fe-2S iron-sulfur cluster, and Mitochondrial iron-sulfur cluster biogenesis pathways.

NFU1 is classified as a druggable target with score 0.0.

Genetic testing for NFU1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 25 always present features, 2 very common features, 4 common features.

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

No clinical trials have been registered for multiple mitochondrial dysfunctions syndrome 1.

3 publications have been identified in PubMed for multiple mitochondrial dysfunctions syndrome 1. Research spans Review / Meta-Analysis (33%), Basic Science / Preclinical (33%), and Epidemiology / Natural History (33%).

Recent Publications

• DiFalco CR (2026). [PMID: 42192213](https://pubmed.ncbi.nlm.nih.gov/42192213/). *Am J Med Genet A*. [Review / Meta-Analysis]

• Liu S (2025). [PMID: 40233434](https://pubmed.ncbi.nlm.nih.gov/40233434/). *Biochemical and biophysical research communications*. [Basic Science / Preclinical]

• Wang L (2025). [PMID: 40186305](https://pubmed.ncbi.nlm.nih.gov/40186305/). *Journal of cardiothoracic surgery*. [Epidemiology / Natural History]