Canavan disease, a rare early-onset human spongiform leukodystrophy: Insights into its genesis and possible clinical interventions

► We examine two current hypotheses regarding the function of NAA in normal brain. ► Canavan disease (CD) is a rare human inborn error where aspartoacylase is inactive. ► Due to the lack of this enzyme the osmolyte NAA builds up in brain in CD. ► Based on the osmotic hypothesis we propose that CD is an osmotic disease. ► Based on this hypothesis we propose several new and testable treatments for CD.