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 University Institute of Clinical Chemistry (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 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 of the group focused on metabolic pathway analysis in normal and primary or secondary OXPHOS deficient cells. The results may provide physiological insight into the metabolic adaptation to energy requirements and adverse events of drugs.


  • Orphan Diseases and Metabolism


  • Clinical, biochemical and genetic characterization of inborn errors of metabolism and metabolic analysis in health an disease.
  • Mitochondrial metabolism, Oxidative Phosphorylation (OXPHOS)
  • Pathway analysis employing a variety of analytical tools such as oxygen consumption studies, Metabolomics, including MS/MS and more recently high resolution NMR and high resolution magic angle spinning (HR-MAS) NMR.


PD Jean-Marc Nuoffer Prof. Peter Vermathen