Inheritance of PEBEL1
PEBEL1 is an autosomal recessive disorder, and this condition can be passed down from both parents to the affected individual. Affected individuals inherit two copies of the gene mistake specifically in the NAXE gene, one from each of their parents. The unaffected parents have one copy with the mistake and one normal copy, and usually do not show signs of the disorder and are asymptomatic.
NAXE gene mistakes
PEBEL1 is caused by ‘mistakes’ in the NAXE gene. The NAXE gene ‘mistakes’ result in the NAXE protein either being absent, or not functioning properly.
The NAXE protein is critical for repairing damaged molecules in the body. When the NAXE protein doesn’t repair these damaged molecules, they accumulate and have a toxic effect. NAXE also helps with cholesterol transport around the body.
Diagnostic testing
PEBEL1 can be diagnosed by genetic testing to detect NAXE gene mistakes.
Genetic testing is suggested in children with rapidly deteriorating brain function, skin lesions, muscle weakness, seizures and/or heart conditions, particularly if their condition occurred after an illness, fever, or injury.
Genetic testing can be by targeted single gene sequencing, multi-gene panels, whole exome or genome sequencing and/or RNA sequencing.
NAXE