This website provides information on individuals with pathogenic variants in the NAXD gene, including clinical data, molecular data, management and research options.

The syndrome caused by pathogenic variants in the NAXD gene is an inherited metabolic disorder characterized primarily by early-onset brain edema and/or leukoencephalopathy-2 (PEBEL2; 618321) often triggered after a period of illness, fever, stress, injury or trauma.
Not all individuals with a pathogenic variant in the NAXD gene have these features.

PEBEL2 is a recessive condition, and in most instances affected children inherit one copy of a pathogenic variant in NAXD from each parent. De novo (spontaneous) presentations are extremely rare.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge about and provide better treatment to individuals with pathogenic variants in the NAXD gene.

dr Nicole Van Bergen, BSc, PhD, Murdoch Children’s Research Institute, Parkville, VIC, Australia, Nicole.vanbergen@mcri.edu.au

Prof. John Christodoulou, AM MB BS PhD FRACP FFSc(RCPA) FRCPA FAHMS, Murdoch Children’s Research Institute, Parkville, VIC, Australia, john.christodoulou@mcri.edu.au

Prof. Carole Linster, BSc, PhD, University of Luxembourg, Esch-sur-Alzette, Luxembourg, carole.linster@uni.lu