Inborn Errors of Metabolism and Mitochondrial Medicine

Metabolism is the most efficient network in nature and a requirement for all life. It is coordinated, compartmentalized in organelles, cells and organs and in humans there is a high degree of functional interaction between the individual structures. 

Metabolic diseases are rare variants in this network, which can lead to malformations and acute or chronic symptoms at any age of the human being.

Our research focuses on the functional characterization of disease mechanisms, the development of innovative laboratory methods and new treatment options for patients with inborn errors of metabolism. We are also involved in national and international registries, collaborations with national and international research groups, and drug trials in the pharmaceutical industry.


  • Prof. Dr. Dr. Hans-Uwe Simon, Dr. Darko Stojkov (Institute of Pharmacology, University of Bern, Switzerland)
  • Prof. Dr. Peter Vermathen, (Inselspital Bern, Switzerland) 
  • PD Dr. Dipl.-Ing. Johannes Mayr (Mitolab, University Hospital Salzburg, Austria)
  • Prof. Dr. Pascal Escher (Inselspital Bern, Switzerland)
  • Prof. Dr. med. Christa Flück (Inselspital Bern, Switzerland)
  • Prof. Dr. med. Johannes Häberle (University Children Hospital, Zürich, Switzerland)  
  • PD Dr. Amit V. Pandey (Inselspital Bern, Switzerland) 
  • Prof. Dr. Marlen Knobloch (University of Lausanne, Department of Physiology, Switzerland)

Our research is supported by the Swiss National Science Foundation and Batzebär

Partners: Swiss metabolic reference centers, Mitonet, Galactosemia NetworkERNDIM