Lysosomal diseases and enzyme replacement therapy
¹ Faculty of Medicine and Nutrition of the Universidad Juárez del Estado de Durango, México.
² Department of genetics, Faculty of Medicine and Nutrition of the Universidad Juárez del Estado de Durango, México.
Review Article
GSC Biological and Pharmaceutical Sciences, 2024, 29(03), 001–016.
Article DOI: 10.30574/gscbps.2024.29.3.0448
Publication history:
Received on 14 October 2024; revised on 28 November 2024; accepted on 30 November 2024
Abstract:
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.
Keywords:
Lysosomal diseases; Enzyme replacement therapy; Genetic disorders; Innovative treatments; Gene therapy
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Copyright © 2024 Author(s) retain the copyright of this article. This article is published under the terms of the Creative Commons Attribution Liscense 4.0
