Inherited Metabolic Disorders: Molecular Mechanisms and Emerging Treatment Paradigms

This chapter provides a contemporary overview of the molecular genetics underlying inborn errors of metabolism, covering enzyme deficiencies, transport defects, and organelle dysfunction across key metabolic pathways. It reviews advances in newborn screening, the expanding use of next-generation sequencing in metabolic diagnostics, and the molecular rationale for dietary, enzymatic, and gene-based therapeutic interventions. Specific attention is given to recent therapeutic breakthroughs in lysosomal storage disorders, urea cycle defects, and organic acidurias.