Elmonem Mohamed A, Abdelazim Aya M
Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt.
Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt.
Clin Chim Acta. 2020 Oct;509:195-209. doi: 10.1016/j.cca.2020.06.028. Epub 2020 Jun 17.
Lysosomal storage disorders (LSDs) are characterized by the accumulation of specific disease substrates inside the lysosomes of various cells, eventually leading to the deterioration of cellular function and multisystem organ damage. With the continuous discovery and validation of novel and advanced therapies for most LSDs, there is an urgent need to discover more versatile and clinically relevant biomarkers. The utility of these biomarkers should ideally extend beyond the screening and diagnosis of LSDs to the evaluation of disease severity and monitoring of therapy. Metabolomic and proteomic approaches provide the means to the discovery and validation of such novel biomarkers. This is achieved mainly through the application of various mass spectrometric techniques to common and easily accessible biological samples, such as plasma, urine and dried blood spots. In this review, we tried to summarize the complexity of the lysosomal disorders phenotypes, their current diagnostic and therapeutic approaches, the various techniques supporting metabolomic and proteomic studies and finally we tried to explore the newly discovered biomarkers for most LSDs and their reported clinical values.
溶酶体贮积症（LSDs）的特征是特定疾病底物在各种细胞的溶酶体内蓄积，最终导致细胞功能恶化和多系统器官损伤。随着针对大多数溶酶体贮积症的新型先进疗法不断被发现和验证，迫切需要发现更多通用且具有临床相关性的生物标志物。理想情况下，这些生物标志物的用途应不仅限于溶酶体贮积症的筛查和诊断，还应扩展到疾病严重程度评估和治疗监测。代谢组学和蛋白质组学方法为发现和验证此类新型生物标志物提供了途径。这主要通过将各种质谱技术应用于常见且易于获取的生物样本，如血浆、尿液和干血斑来实现。在本综述中，我们试图总结溶酶体疾病表型的复杂性、其当前的诊断和治疗方法、支持代谢组学和蛋白质组学研究的各种技术，最后我们试图探索大多数溶酶体贮积症新发现的生物标志物及其报道的临床价值。
