- Article
Propionic Acidemia, Methylmalonic Acidemia, and Cobalamin C Deficiency: Comparison of Untargeted Metabolomic Profiles
- Anna Sidorina,
- Giulio Catesini,
- Elisa Sacchetti,
- Cristiano Rizzo and
- Carlo Dionisi-Vici
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 variou...