Features include always present findings: Encephalopathy and Skin rash; and common findings: Lethargy, Brain shrinkage (cerebral atrophy), Vomiting, and Loss of previously acquired skills (developmental regression) and others. 42 total HPO annotations.

NAXD encodes NAD(P)HX dehydratase (347 aa). Catalyzes the dehydration of the S-form of NAD(P)HX at the expense of ATP, which is converted to ADP. Highest expression in Ovary (160.0 TPM) and Brain Cerebellar Hemisphere (113.3 TPM).

NAD(P)HX dehydratase deficiency is associated with mutations in the NAXD gene on chromosome 13.

NAXD is classified as a druggable target (Enzyme category) with score 0.0.

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

Phenotype severity distribution: 2 always present features, 7 common features.

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

No clinical trials have been registered for NAD(P)HX dehydratase deficiency.

6 publications have been identified in PubMed for NAD(P)HX dehydratase deficiency. Research spans Basic Science / Preclinical (67%), Case Report / Case Series (17%), and Gene Therapy / Novel Therapeutics (17%).

Recent Publications

• Xu C (2026). [PMID: 41578284](https://pubmed.ncbi.nlm.nih.gov/41578284/). *Orphanet J Rare Dis*. [Basic Science / Preclinical]

• Patraskaki M (2026). [PMID: 41621837](https://pubmed.ncbi.nlm.nih.gov/41621837/). *J Inherit Metab Dis*. [Basic Science / Preclinical]

• Garg A (2026). [PMID: 41747729](https://pubmed.ncbi.nlm.nih.gov/41747729/). *Cell*. [Gene Therapy / Novel Therapeutics]

• Walvekar AS (2025). [PMID: 39789421](https://pubmed.ncbi.nlm.nih.gov/39789421/). *Cell Mol Biol Lett*. [Basic Science / Preclinical]

• Nakajima K (2025). [PMID: 40113573](https://pubmed.ncbi.nlm.nih.gov/40113573/). *J Biochem*. [Basic Science / Preclinical]