溶酶体贮积症(lysosomal storagedisease)是一组较常见的遗传性代谢病,由于溶酶体中某些酸性水解酶的遗传缺陷,导致相应的底物降解障碍而贮积在溶酶体中,造成细胞结构和功能障碍,影响了整个器官结构和功能。这组疾病在儿科遗传病中占有重要的地位,目前无有效治疗方法,且大多数此类疾病 Lysosomal storage disease is a common group of hereditary metabolic diseases that are stored in lysosomes due to the genetic defects of certain acidic hydrolases in lysosomes that cause the corresponding substrate to degrade , Resulting in cell structure and dysfunction, affecting the entire organ structure and function. This group of diseases occupies an important position in pediatric genetic diseases, there is no effective treatment, and most of these diseases