Margarida F.B. Silva, of Metabolism, Genetics and Proteins in Health & Disease group at iMed.ULisboa (Faculdade de Farmácia, da Universidade de Lisboa), received a Dr. Aguinaldo Cabral research grant from Sociedade Protuguesa de Doenças Metabólicas (SPDM) with the project Novel insights into treatment strategies for hyperammonemia-associated urea cycle disorders and organic acidurias.

Hyperammonemia (HA) in paediatric patients is mostly related to inborn errors of metabolism (IEM) including urea cycle disorders and certain organic acidurias. The rise of toxic ammonia levels may have devastating consequences on neurodegeneration and neurodevelopment. Preventive strategies of metabolic deterioration and more effective therapeutic options are definitely needed.

This research project aims to assess and develop novel therapies, especially tailored to the various IEM and phenotypes associated with HA. Bioanalytical approaches will be devised and validated to trace metabolic reactions and function of specific enzymes. The proposed studies will provide novel insights into the molecular mechanisms of ammonia pathogenesis linked to the major pathways of mitochondrial energy dysregulation focused on proximal or distal reactions of urea cycle, krebs cycle and fatty acid oxidation.

Read more information, here