Elucidation of the Pathogenesis of Peroxisome Biogenesis Disorders (pbds): from Molecular Mechanisms to Diagnosis-Therapy Linkages and AI-assisted Potential

Peroxisomes are essential, highly conserved organelles in eukaryotic cells, with well-characterized roles in fatty acid β-oxidation, ether phospholipid (a key component of myelin lipid) synthesis, and maintaining redox homeostasis. Peroxisomal disorders primarily arise from abnormalities in peroxisome biogenesis or degradation, as well as enzyme deficiencies, often with genetic mutations serving as their underlying drivers. To date, effective therapeutic strategies for these disorders remain scarce. This review focuses on elucidating the pathogenesis of peroxisome biogenesis disorders (PBDs), while also clarifying the diagnostic and therapeutic approaches for PBDs specifically. It also includes a brief discussion on the role of artificial intelligence (AI) in the management of these disorders. This ultimately aims to provide a theoretical basis and practical reference for future clinical interventions.