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

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...

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Bibliographic Details
Published in:Indian journal of pediatrics 2024-02, Vol.91 (2), p.184-187
Main Authors: Rao, Swathi Sunil, Bhavani, Gandham Srilakshmi, Jalan, Anil B., Shenoy, Rathika D.
Format: Article
Language:English
Subjects:
Clinical Brief
Gynecology
Medicine
Medicine & Public Health
Pediatrics
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Summary: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.
ISSN:0019-5456
0973-7693
DOI:10.1007/s12098-023-04495-y