ARLIAK is an emerging type of leukodystrophy! This write up was provided by Dr. Joshua Bonkowsky, a member of the ULF’s Medical and Scientific Advisory Board, we are working to include a more robust description in the near future as more is learned about ARLIAK. Thank you for your patience!
ARLIAK (acute reversible leukoencephalopathy and alpha-ketoglutarate accumulation) is a more recently recognized leukodystrophy. The condition is caused by autosomal recessive pathogenic variants in the SLC13A3 gene, which encodes the Na+/dicarboxylate cotransporter 3. In addition to identifying the variants, patients also have elevated urine levels of alpha-ketoglutarate (on urine organic acid testing). The primary clinical feature reported is acute severe neurological deterioration associated with a febrile illness. Affected individuals appear to recover between episodes, although long-term prognosis is poorly understood currently. Reported MRI brain findings are primarily affecting the white matter, and include symmetric bilateral T2 hyperintensity, and during the acute episode, diffusion restriction