The Clinical Burden of Inherited Neurometabolic Disorders in Adults-A Territorial Care Approach

Neurometabolic diseases encompass a diverse group of rare and often progressive genetic disorders affecting the nervous system due to abnormalities in metabolic pathways. These conditions, including mitochondrial disorders, lysosomal storage diseases, and others, can manifest in adults with a range of neurological symptoms, which will be reviewed here. Given their complexity and chronic nature, comprehensive management is crucial for improving patients' quality of life. In this Invited Perspective, we review the neurological signs and symptoms of the most commonly encountered inherited metabolic disorders in adult neurology. Furthermore, drawing on our clinical experience, we demonstrate that an integrated local care approach is fundamental for these patients, as it enables continuous monitoring, early intervention, and coordinated multidisciplinary support.