Glycosphingolipids are important building blocks of the outer leaflet of the cell membrane. They are continuously recycled, involving fragmentation inside lysosomes by glycosidases. Inherited defects in degradation cause lysosomal glycosphingolipid storage disorders. The relatively common glycosphingolipidosis Gaucher disease is highlighted here to discuss new insights in the molecular basis and pathophysiology of glycosphingolipidoses reached by fundamental research increasingly using chemical biology tools. We discuss improvements in the detection of glycosphingolipid metabolites by mass spectrometry and review new developments in laboratory diagnosis and disease monitoring as well as therapeutic interventions.

中文翻译：

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如高雪氏病所示，糖鞘脂和溶酶体贮积病。

糖鞘脂是细胞膜外小叶的重要组成部分。它们被连续地再循环，涉及糖苷酶在溶酶体内破碎。降解中的遗传缺陷会导致溶酶体糖鞘脂贮积障碍。本文重点介绍了相对常见的鞘糖脂异常Gaucher病，以讨论越来越多的使用化学生物学工具进行基础研究的关于糖鞘脂糖分子基础和病理生理的新见解。我们讨论了通过质谱检测糖鞘脂代谢产物的改进，并回顾了实验室诊断和疾病监测以及治疗干预方面的新发展。