Telethon Institute of Genetics and Medicine, Pozzuoli 80078, Italy.
Annu Rev Med. 2015;66:471-86. doi: 10.1146/annurev-med-122313-085916.
Lysosomal storage diseases are a group of rare, inborn, metabolic errors characterized by deficiencies in normal lysosomal function and by intralysosomal accumulation of undegraded substrates. The past 25 years have been characterized by remarkable progress in the treatment of these diseases and by the development of multiple therapeutic approaches. These approaches include strategies aimed at increasing the residual activity of a missing enzyme (enzyme replacement therapy, hematopoietic stem cell transplantation, pharmacological chaperone therapy and gene therapy) and approaches based on reducing the flux of substrates to lysosomes. As knowledge has improved about the pathophysiology of lysosomal storage diseases, novel targets for therapy have been identified, and innovative treatment approaches are being developed.
溶酶体贮积症是一组罕见的、先天性的代谢错误，其特征是正常溶酶体功能缺陷和未降解底物在溶酶体内蓄积。在过去的 25 年中，这些疾病的治疗取得了显著进展，并开发了多种治疗方法。这些方法包括旨在提高缺失酶的残留活性的策略（酶替代疗法、造血干细胞移植、药理学伴侣治疗和基因治疗）以及基于减少底物向溶酶体流动的方法。随着对溶酶体贮积症病理生理学认识的提高，已经确定了新的治疗靶点，并正在开发创新的治疗方法。
