Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics.

ABSTRACT: Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways by genetic mutations, either directly or indirectly by cofactor deficiencies, causing altered levels of compounds associated with these pathways. While IEMs may present with multiple overlapping symptoms and metabolites, early and accurate diagnosis of IEMs is critical for the long-term health of affected subjects. The prevalence of IEMs differs between countries, likely because different IEM classifications and IEM screening methods are used. Currently, newborn screening programs exclusively use targeted metabolic assays that focus on limited panels of compounds for selected IEM diseases. Such targeted approaches face

SUBMITTER: Ismail IT 

PROVIDER: S-EPMC6835511 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature