Ontology highlight
ABSTRACT:
SUBMITTER: Hoegen B
PROVIDER: S-EPMC8470724 | biostudies-literature | 2021 Aug
REPOSITORIES: biostudies-literature
Hoegen Brechtje B Zammit Alan A Gerritsen Albert A Engelke Udo F H UFH Castelein Steven S van de Vorst Maartje M Kluijtmans Leo A J LAJ Huigen Marleen C D G MCDG Wevers Ron A RA van Gool Alain J AJ Gilissen Christian C Coene Karlien L M KLM Kulkarni Purva P
Metabolites 20210826 9
Inborn errors of metabolism (IEM) are inherited conditions caused by genetic defects in enzymes or cofactors. These defects result in a specific metabolic fingerprint in patient body fluids, showing accumulation of substrate or lack of an end-product of the defective enzymatic step. Untargeted metabolomics has evolved as a high throughput methodology offering a comprehensive readout of this metabolic fingerprint. This makes it a promising tool for diagnostic screening of IEM patients. However, t ...[more]