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

• Published in: Indian journal of pediatrics Vol. 91; no. 2; pp. 184 - 187
• Main Authors: Rao, Swathi Sunil, Bhavani, Gandham Srilakshmi, Jalan, Anil B., Shenoy, Rathika D.
• Format: Journal Article
• Language: English
• Published: New Delhi Springer India 01-02-2024
• Subjects: Clinical Brief; Gynecology; Medicine; Medicine & Public Health; Pediatrics; Encephalomyopathy; Ptosis; PEBEL1; Fever
• ISSN: 0019-5456; 0973-7693
• DOI: 10.1007/s12098-023-04495-y

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 authors report two living children from unrelated families with PEBEL1. Both children presented in infancy with ptosis, squint, and ataxia with no skin manifestations. Whole-exome sequencing revealed previously reported c.804_807delInsA (p.Lys270del) variation in exon 6 of
NAXE
. This is the first Indian report of PEBEL1.