Lysosomes and lysosomal enzymes play a central role in numerous cellular processes, including cellular nutrition, recycling, signaling, defense, and cell death. Genetic deficiencies of lysosomal components, most commonly enzymes, are known as “lysosomal storage disorders” or “lysosomal diseases” (LDs) and lead to lysosomal dysfunction. LDs broadly affect peripheral organs and the central nervous system (CNS), debilitating patients and frequently causing fatality. Among other approaches, enzyme replacement therapy (ERT) has advanced to the clinic and represents a beneficial strategy for 8 out of the 50–60 known LDs. However, despite its value, current ERT suffers from several shortcomings, including various side effects, development of “resistance”, and suboptimal delivery throughout the body, particularly to the CNS, lowering the therapeutic outcome and precluding the use of this strategy for a majority of LDs. This review offers an overview of the biomedical causes of LDs, their socio-medical relevance, treatment modalities and caveats, experimental alternatives, and future treatment perspectives.

溶酶体和溶酶体酶在许多细胞过程中发挥着核心作用，包括细胞营养、回收、信号传导、防御和细胞死亡。溶酶体成分（最常见的是酶）的遗传缺陷被称为“溶酶体贮积症”或“溶酶体疾病”（LD），并导致溶酶体功能障碍。 LD 广泛影响外周器官和中枢神经系统 (CNS)，使患者衰弱并经常导致死亡。在其他方法中，酶替代疗法 (ERT) 已进入临床，对 50-60 种已知 LD 中的 8 种来说是一种有益的策略。然而，尽管有其价值，目前的 ERT 仍存在一些缺点，包括各种副作用、“耐药性”的产生以及全身（尤其是中枢神经系统）的递送不理想，从而降低了治疗效果并妨碍了大多数人使用该策略LD。这篇综述概述了 LD 的生物医学原因、其社会医学相关性、治疗方式和注意事项、实验替代方案以及未来的治疗前景。