Profound Biotinidase Deficiency as a Treatable Cause of Pediatric Diffuse Leukoencephalopathy and Diffusion Restriction
Published online on March 18, 2026
Abstract
Journal of Child Neurology, Ahead of Print.
BackgroundBiotinidase deficiency (BTD) is a rare, autosomal-recessive neurometabolic disorder due to biallelic pathogenic variants in theBTDgene. Diffuse leukoencephalopathy with diffusion restriction on neuroimaging is a rare but reversible radiologic ...
BackgroundBiotinidase deficiency (BTD) is a rare, autosomal-recessive neurometabolic disorder due to biallelic pathogenic variants in theBTDgene. Diffuse leukoencephalopathy with diffusion restriction on neuroimaging is a rare but reversible radiologic ...