Wenger David A, Coppola Stephanie, Liu Shu-Ling
Department of Neurology, Jefferson Medical College, 1020 Locust St, Room 394, Philadelphia, PA 19107, USA.
Arch Neurol. 2003 Mar;60(3):322-8. doi: 10.1001/archneur.60.3.322.
Lysosomal storage diseases (LSDs) are a group of genetic disorders that result from defective lysosomal metabolism or export of naturally occurring compounds. Signs and symptoms are variable both within and between disorders depending on the location and extent of storage. Many patients develop neurologic symptoms that become obvious from the newborn period to adulthood. Diagnosis of suspected patients can usually be made by measuring the activity of an enzyme or concentration of a metabolite in easily obtained tissue samples. Based on the considerable diagnostic experience of our laboratory, we aid the physician in selecting the appropriate tests to perform. Hematopoietic stem cell transplantation and enzyme replacement therapy are already available or in clinical trials for a number of LSDs. Early diagnosis is critical, especially since those patients who are treated before significant symptoms arise have the best chance for a positive outcome.
溶酶体贮积症（LSDs）是一组遗传性疾病，由溶酶体代谢缺陷或天然存在化合物的输出异常所致。不同疾病之间以及同一疾病内部，其体征和症状因贮积的位置和程度而异。许多患者会出现神经系统症状，从新生儿期到成年期均可能表现明显。疑似患者的诊断通常可通过检测易于获取的组织样本中的酶活性或代谢物浓度来进行。基于我们实验室丰富的诊断经验，我们协助医生选择合适的检测项目。造血干细胞移植和酶替代疗法已应用于多种溶酶体贮积症，或正处于临床试验阶段。早期诊断至关重要，特别是因为那些在出现明显症状之前接受治疗的患者获得良好预后的机会最大。
