Families

A genetic coding mistake in a gene called NAXE causes a rapid and severe genetic condition in young children.

This condition is called PEBEL1, which stands for progressive early-onset encephalopathy with brain edema and/or leukoencephalopathy 1.

This condition is very rare. In most cases an affected individual will have two copies of the ‘damaged’ NAXE gene, one copy of which they have inherited from each parent. The parents are normally unaffected.  

Generally, affected individuals are born healthy, with disease progression being triggered by what would normally be a common fever or minor injury/ trauma.

Affected individuals present with a rapidly deteriorating brain condition, skin blisters, loss of bodily movement, ocular conditions and in some individuals, seizures and skin rashes. Individuals have rapid disease progression that is usually fatal. Less common clinical features may include muscle weakness, numbness or pain.