Abstract
PURPOSE OF REVIEW: To present emerging issues in neurometabolic disorders, with an emphasis on the diagnostic workup of patients with suspected neurometabolic disorders and some future challenges in the care for these patients. RECENT FINDINGS: Next-generation sequencing and next-generation metabolic screening increase the speed and yield of the diagnostic process in neurometabolic disorders. Furthermore, they deepen our insights into the underlying disease mechanisms. Care of adult patients with neurometabolic disorders is an expanding subspecialty, especially in internal medicine and neurology. SUMMARY: We briefly discuss some novel genetic and biochemical laboratory techniques and changing insights in the molecular basis of disease, and illustrate the importance of MRI pattern recognition in the diagnostic process. Furthermore, we discuss gene therapy that is cautiously entering the field, and pay attention to the new field of (transition of) care for adult patients with inborn errors of metabolism.