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Le Ding¹, Ting-Ting Huang¹, Guo-Huan Ying¹

¹Department of Neurology, Children's Hospital of Nanjing Medical University, Nanjing 210008, Jiangsu Province, China.

World Journal of Clinical Cases

|June 5, 2023

Summary

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This study details a severe case of early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1) in China, linked to NAXE gene defects. A novel mutation was identified, expanding the known genetic variations for this rare neurometabolic disorder.

Area of Science:

Neurology
Genetics
Metabolic Disorders

Background:

Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1) is a rare, severe autosomal recessive neurometabolic disease.
NAXE (APOA1BP)-related defects are implicated in PEBEL1.

Keywords:

APOAIBP gene Case report Cerebral edema Encephalopathy NAXE gene Novel variation Respiratory insufficiency

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