IMD Research Round-Up: Methylmalonic Aciduria

Dr Sabine Fuchs, Professor of Metabolic diseases and innovative therapies at the UMC Utrecht, and Dr Sean Froese, a Principal Investigator in the Metabolism Division at University Children’s Hospital Zürich, join Rodrigo and Silvia to discuss new insights and some of their favourite papers on Methylmalonic Aciduria. Authors opinions are their own and do not represent their institutions. Papers discussed include: Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency Forny et al Aberrant methylmalonylation underlies methylmalonic acidemia and is attenuated by an engineered sirtuin. Head et al Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation. Manoli et al Prime editing for functional repair in patient-derived disease models Schene et al Mutation-specific reporter for optimization and enrichment of prime editing Schene et al Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia. Manoli et al Fibroblast growth factor 21 as a biomarker for long-term complications in organic acidemias. Molema et al