Metabolic landscape of inborn errors of metabolism

Metabolomics is a powerful tool to identify the complex metabolic characteristics of human diseases. Inborn errors of metabolism (IEMs) are Mendelian diseases caused by inherited defects in metabolic enzymes, nutrient transporters, and other components of the human metabolic network. Using metabolomics to assess metabolic anomalies in patients with IEMs can help characterize these diseases and clarify the impact of genomic variants. Here we present a cohort of 474 subjects recruited from Mendelian disease clinics, including 242 patients with known or suspected IEMs and their family members. Th

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