NAXE gene mutation-related progressive encephalopathy: A case report and literature review
Journal
Medicine
Journal Volume
100
Journal Issue
42
Date Issued
2021-10-22
Author(s)
Chiu, Li-Wei
Lin, Sheng-Shing
Chen, Chieh-Ho
Lin, Chien-Heng
Hong, Syuan-Yu
Chou, I-Ching
Lin, Chien-Lin
Yang, Pei-Yu
Abstract
Progressive encephalopathy with brain edema and/or leukoencephalopathy-1 is an infantile, lethal neurometabolic disorder caused by a NAD(P)HX epimerase (NAXE) gene mutation. It is characterized by a fluctuating disease course with repeated episodes of improvement and regression. In this report, we present a rare case of NAXE gene mutation-related encephalopathy with unexpected neurological recovery and long survival time.
Subjects
case report; early onset; NAD(P)HX epimerase gene; neurometabolic disorder; progressive encephalopathy
SDGs
Other Subjects
isomerase; NAXE protein, human; ubidecarenone; ubiquinone; vitamin B complex; brain disease; case report; dietary supplement; female; genetics; human; infant; pathophysiology; whole exome sequencing; Brain Diseases; Dietary Supplements; Female; Humans; Infant; Racemases and Epimerases; Ubiquinone; Vitamin B Complex; Whole Exome Sequencing
Publisher
LIPPINCOTT WILLIAMS & WILKINS
Type
journal article