Metabolomics and Brain & Neurological Diseases

Metabolomics has emerged as a pivotal analytical approach for investigating the complex pathophysiology of major central nervous system disorders, including epilepsy, Alzheimer’s disease (AD), and Parkinson’s disease (PD). This chapter outlines how small-molecule metabolite profiling provides deep insights into disease-specific mechanisms: epilepsy is primarily linked to neurotransmitter imbalances (glutamate-GABA) and altered glucose-lactate shuttling; AD is characterized by early mitochondrial dysfunction, perturbed lipid metabolism, and gut-microbiota interactions; and PD involves significant energy metabolism disruption, lipidomic alterations, and alpha-synuclein pathology. By utilizing technologies such as mass spectrometry and magnetic resonance spectroscopy, researchers have identified metabolic biomarkers in blood, urine, and cerebrospinal fluid that facilitate early diagnosis, monitor disease progression, and predict therapeutic responses, particularly in drug-resistant cases. Despite methodological challenges regarding standardization and biological variability, the integration of metabolomics with artificial intelligence and multi-omics technologies holds immense potential for advancing personalized medicine and discovering novel therapeutic targets in neurological disorders.