Enzyme replacement therapy is a medical treatment strategy involving the periodic administration of exogenous enzymes to patients with inherited metabolic disorders characterized by enzyme deficiencies. As a significant methodological approach within clinical genetics and metabolic medicine, it investigates the efficacy, optimal delivery methods, and long-term clinical outcomes associated with replacing deficient or non-functional enzymes. Its key characteristic is the systemic or targeted delivery of recombinant or purified enzymes to restore metabolic function, thereby mitigating disease pathology and managing symptoms, offering a critical therapeutic option for conditions such as lysosomal storage diseases.