Lysosomal diseases and enzyme replacement therapy

Lysosomal diseases are genetic disorders caused by enzyme deficiencies that lead to substrate accumulation within lysosomes. Key conditions treated with enzyme replacement therapy (ERT) include Gaucher disease, Pompe disease, Fabry disease, alpha-mannosidosis, and mucopolysaccharidoses types I (MPS I) and II (MPS II). ERT involves administering exogenous enzymes to partially restore their function, reduce substrate accumulation, and improve clinical symptoms. While ERT has shown benefits in slowing disease progression and enhancing quality of life, it faces challenges such as immunogenicity, limited biodistribution, and high costs. This work examines the characteristics of these diseases, advances in ERT, and future perspectives for improving its effectiveness and accessibility.