Mitochondrial disease

Gene: NAXE

Green List (high evidence)

Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions. More than 5 unrelated families reported.

Created: 15 Sep 2020, 10:43 p.m. | Last Modified: 15 Sep 2020, 10:43 p.m.

Panel Version: 0.493

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186

Publications

• 27122014
• 27616477
• 31758406