Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University of Graz, Graz, Austria.
Biochim Biophys Acta Mol Cell Biol Lipids. 2024 Jun;1869(5):159491. doi: 10.1016/j.bbalip.2024.159491. Epub 2024 Mar 31.
Inborn errors of metabolism (IEM) represent a heterogeneous group of more than 1800 rare disorders, many of which are causing significant childhood morbidity and mortality. More than 100 IEM are linked to dyslipidaemia, but yet our knowledge in connecting genetic information with lipidomic data is limited. Stable isotope tracing studies of the lipid metabolism (STL) provide insights on the dynamic of cellular lipid processes and could thereby facilitate the delineation of underlying metabolic (patho)mechanisms. This mini-review focuses on principles as well as technical limitations of STL and describes potential clinical applications by discussing recently published STL focusing on IEM.
先天性代谢缺陷（IEM）是一组超过 1800 种罕见疾病的异质性疾病，其中许多疾病会导致严重的儿童发病率和死亡率。超过 100 种 IEM 与血脂异常有关，但我们将遗传信息与脂质组学数据联系起来的知识还很有限。脂质代谢的稳定同位素示踪研究（STL）提供了对细胞脂质代谢动态的深入了解，并能有助于阐明潜在的代谢（病理）机制。这篇迷你综述重点介绍了 STL 的原理和技术局限性，并通过讨论最近发表的关于 IEM 的 STL，描述了其潜在的临床应用。
