Don’t miss this treatable neurogenetic disease!

Abstract Neurogenetic diseases are individually rare but collectively common. Recent advances in genetic diagnostics, expansion of newborn screening, and therapeutic progress make timely recognition of these disorders more crucial than ever. This review will encompass the most common white matter-dominant, gray matter-dominant, and magnetic resonance spectroscopy (MRS) characteristic genetic conditions causing metabolic disorders with (1) specific MRI/MRS features and (2) therapy available to cure, halt progression, slow progression, or reduce symptoms.