Abstract：
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.
摘要：
先天性代谢错误（IEM）代表了1800多种罕见疾病的异质组，其中许多正在导致显著的儿童发病率和死亡率。超过100个IEM与血脂异常有关，但是，我们在将遗传信息与脂质组学数据联系起来方面的知识是有限的。脂质代谢（STL）的稳定同位素追踪研究提供了有关细胞脂质过程动态的见解，从而可以促进对潜在代谢（病理）机制的描述。这篇小型综述重点介绍了STL的原理和技术局限性，并通过讨论最近发表的针对IEM的STL来描述潜在的临床应用。
