Inborn Errors of metabolism are rare events of nature allowing better understanding of metabolic pathways in health and in more common diseases. The Metabolic Disease Group is focused on the functional and biochemical characterization of inborn errors of metabolism and metabolic analysis in more common situations. As part of the UKC it performs research projects in close collaboration with the other research groups and the Metabolomics facility of the UKC facilitating the usage of newest research equipment, especially of diverse state of the art MS/MS methods. High-Resolution NMR including Magic Angle Spinning NMR (HR-MAS) is a new advent at the UKC complementing MS and in a variety of areas enabling new non-invasive and non-destructive investigations of samples. HR-MAS NMR allows for metabolomical investigations of semi-solid materials including cell cultures. Besides targeted assays, it provides an ideal tool also for metabolomics. Recent research focused on metabolic pathway analysis in normal and OXPHOS deficient cells. The results may provide physiological insight into the metabolic adaptation to energy requirements and adverse events of drugs.
Clinical, biochemical and genetic characterization of inborn errors of metabolism and metabolic analysis in health and disease.