NAXE encodes NAD(P)HX epimerase (288 aa). Catalyzes the epimerization of the S- and R-forms of NAD(P)HX, a damaged form of NAD(P)H that is a result of enzymatic or heat-dependent hydration. Highest expression in Uterus (79.2 TPM) and Thyroid (77.8 TPM).

Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 is associated with mutations in the NAXE gene on chromosome 1.

NAXE is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.

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

Biomarker and diagnostic research for encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 has been reported in the published literature.

Phenotype severity distribution: 7 always present features, 10 common features.

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

No clinical trials have been registered for encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1.

262 publications have been identified in PubMed for encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1. Kisho has analyzed 188 by research type. Research spans Basic Science / Preclinical (42%), Epidemiology / Natural History (22%), and Review / Meta-Analysis (10%).

Recent Publications

• Sartorelli J (2026). [PMID: 41483250](https://pubmed.ncbi.nlm.nih.gov/41483250/). *Neurol Sci*. [Epidemiology / Natural History]

• Ford AL (2026). [PMID: 41719494](https://pubmed.ncbi.nlm.nih.gov/41719494/). *Neurology*. [Diagnostic / Biomarker]

• Wagstaff H (2026). [PMID: 41260848](https://pubmed.ncbi.nlm.nih.gov/41260848/). *Emerg Med Clin North Am*. [Review / Meta-Analysis]

• Yang L (2026). [PMID: 40841755](https://pubmed.ncbi.nlm.nih.gov/40841755/). *Mol Psychiatry*. [Basic Science / Preclinical]

• Blant JC (2026). [PMID: 41719500](https://pubmed.ncbi.nlm.nih.gov/41719500/). *Neurol Neuroimmunol Neuroinflamm*. [Epidemiology / Natural History]

• Santiago IB (2026). [PMID: 41638970](https://pubmed.ncbi.nlm.nih.gov/41638970/). *Revue neurologique*. [Review / Meta-Analysis]

• Thomas OG (2026). [PMID: 41534529](https://pubmed.ncbi.nlm.nih.gov/41534529/). *Cell*. [Gene Therapy / Novel Therapeutics]

• De Pace R (2026). [PMID: 41887224](https://pubmed.ncbi.nlm.nih.gov/41887224/). *Am J Hum Genet*. [Gene Therapy / Novel Therapeutics]

• Torkildsen Ø (2026). [PMID: 41289545](https://pubmed.ncbi.nlm.nih.gov/41289545/). *Neurology(R) neuroimmunology &amp; neuroinflammation*. [Basic Science / Preclinical]

• Marten LM (2026). [PMID: 41177236](https://pubmed.ncbi.nlm.nih.gov/41177236/). *Free Radic Biol Med*. [Basic Science / Preclinical]