neurometabolic

Neurometabolic refers to the interface between nervous system function and cellular metabolism. In neuroscience, it describes how neurons and glial cells generate and use energy to sustain signaling, maintain ion gradients, and support plasticity. The brain's high energy demand relies on mitochondrial oxidative phosphorylation for ATP, while astrocytes contribute to energy supply through glycolysis and lactate shuttling to neurons. Glucose is the primary brain fuel, with alternative substrates such as ketone bodies becoming important in certain states.

Disruptions in neurometabolic pathways lead to neurometabolic disorders, a broad group of genetic and acquired diseases in which brain metabolism is impaired. Categories include mitochondrial diseases affecting components of the electron transport chain, organic acidemias that disrupt intermediary metabolism, and storage disorders with abnormal metabolite accumulation. Clinical features are heterogeneous and may include developmental delay, hypotonia, movement disorders, seizures, and progressive neurodegeneration. The severity and onset can vary widely even among individuals with the same condition.

Diagnosis combines clinical assessment with laboratory and imaging studies: plasma and CSF metabolite profiles, urinary organic acids, targeted enzyme assays, neuroimaging (MRI), MR spectroscopy, and genetic testing, including next-generation sequencing. Management is multidisciplinary and aims to minimize metabolic decompensation, optimize neurologic function, and address systemic involvement. Therapeutic strategies may include dietary modifications, such as protein or fat adjustments and, in select cases, ketogenic diets; supplementation with vitamins or cofactors (eg, carnitine, riboflavin); and symptomatic treatments for seizures or movement disorders. In some mitochondrial diseases, experimental therapies and gene therapies are under investigation.

Research in neurometabolism investigates neuron–glia metabolic coupling, biomarkers of metabolic distress, and approaches to restore energy homeostasis in the brain.