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Article

Nuclear Mitochondrial Disorder Due to a Variant in NAXE in Two Unrelated Indian Children.

Indian journal of pediatrics - 1 Feb 2024

Rao Swathi Sunil, Bhavani Gandham Srilakshmi, Jalan Anil B, Shenoy Rathika D

Abstract excerpt

Progressive encephalopathy with brain edema and/or leukoencephalopathy type 1 (PEBEL1) is a nuclear mitochondrial disorder involving the NAD(P)HX repair mechanism due to a NAXE variation. PEBEL1 is characterized by rapid neurologic deterioration culminating in death following high-grade fever during infancy. Currently, 23 patients from 14 families are described in the literature, with only three survivors. The...

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Identifiers

PMID: 36773198
DOI: 10.1007/s12098-023-04495-y

Genes

NAXE

Variants

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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Nuclear Mitochondrial Disorder Due to a Variant in NAXE in Two Unrelated Indian Children.PMID 36773198Read ↗

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