Article

Propionic Acidemia, Methylmalonic Acidemia, and cblC Defect: Comparison of Untargeted Metabolomic Profiles

2024-06-12

Abstract excerpt

Methylmalonic acidemia (MMA), propionic acidemia (PA), and cobalamin C deficiency (cblC) share a defect in propionic acid metabolism. In addition, cblC is also involved in the process of homocysteine remethylation. These three diseases produce various phenotypes and complex downstream metabolic effects. In this study we used an untargeted metabolomics approach to investigate the biochemical differences and the pos...

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Literature Corpus work: f2297e9d-f802-5f7e-8edf-f410d5afa0b5
DOI: 10.20944/preprints202406.0773.v1

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