Long-term follow-up of an attenuated presentation of NAXE-related disease, a potentially actionable neurometabolic disease: a case report.

ABSTRACT:

Background

Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy (PEBEL-1) is an autosomal recessive disorder whereby a fluctuating clinical course is exacerbated by febrile illnesses. Pathogenic NAD(P)HX epimerase (NAXE) gene mutations underpin this disorder. This mutation damages the metabolite repair system involved in regenerating crucial redox carriers. Longer survival has rarely been reported in this potentially actionable entity.

Objectives

This case study aims to report a milder phenotype of a patient with NAXE gene mutation and his longitudinal follow-up of more than 20 years.

Case report

A 24-year-old man first became symptomatic in infancy with frequent initial neurological decompensations in the setting of infecti

SUBMITTER: Almudhry M 

PROVIDER: S-EPMC10899487 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature