Tracing the lipidome in inborn errors of metabolism.
Biochim Biophys Acta Mol Cell Biol Lipids
; 1869(5): 159491, 2024 Jun.
Article
em En
| MEDLINE
| ID: mdl-38565373
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Metabolismo dos Lipídeos
/
Lipidômica
Limite:
Animals
/
Humans
Idioma:
En
Revista:
Biochim Biophys Acta Mol Cell Biol Lipids
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Áustria