A genetic coding mistake in a gene called NAXD causes a rapid and severe genetic condition in young children.
This condition is called PEBEL2, which stands for Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2.
This condition is very rare. In most cases an affected individual will have two copies of the ‘damaged’ NAXD 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 associated childhood illness, or apparently minor injury/ trauma.
There are two main clinical subtypes of PEBEL2. Affected individuals with the main clinical subtype present with a rapidly deteriorating brain condition, skin blisters, loss of bodily movement and seizures. Individuals with the major clinical subtype generally have rapid disease progression that is fatal in the majority of individuals. Affected individuals with the less common clinical subtype present with a range of heart problems, some muscle weakness, numbness or pain. Generally, these individuals have a less severe condition and less aggressive disease.