Tracing the lipidome in inborn errors of metabolism

Biochim Biophys Acta Mol Cell Biol Lipids. 2024 Mar 31:159491. doi: 10.1016/j.bbalip.2024.159491. Online ahead of print.ABSTRACTInborn 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.PMID:38565373 | DOI:10.1016/j.bbalip.2024.159491
Source: Mol Biol Cell - Category: Molecular Biology Authors: Source Type: research