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Article

NAD(P)HX dehydratase (NAXD) deficiency due to a novel biallelic missense variant and review of literature.

European journal of medical genetics - 1 Sept 2021

Majethia Purvi, Mishra Shivani, Rao Lakshmi Priya, Rao Raghavendra, Shukla Anju

Abstract excerpt

Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 (PEBEL2; MIM# 618321), caused by biallelic pathogenic variants in the NAD(P)HX dehydratase (NAXD) is a rare metabolite repair disorder. It is characterized by progressive neurological deterioration usually associated with a febrile illness. The other common findings include skin lesions, elevated serum or cerebrospinal fluid...

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Identifiers

PMID: 34161859
DOI: 10.1016/j.ejmg.2021.104266
PMCID: PMC8913183

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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