Chiu, Li-WeiLi-WeiChiuLin, Sheng-ShingSheng-ShingLinChen, Chieh-HoChieh-HoChenLin, Chien-HengChien-HengLinNI-CHUNG LEEHong, Syuan-YuSyuan-YuHongChou, I-ChingI-ChingChouLin, Chien-LinChien-LinLinYang, Pei-YuPei-YuYang2022-03-102022-03-102021-10-220025-7974https://scholars.lib.ntu.edu.tw/handle/123456789/596960Progressive 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.encase report; early onset; NAD(P)HX epimerase gene; neurometabolic disorder; progressive encephalopathy[SDGs]SDG3isomerase; 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 Sequencingjournal article10.1097/MD.0000000000027548346788892-s2.0-85120720627WOS:000709999400012https://api.elsevier.com/content/abstract/scopus_id/85120720627