Inborn errors of metabolism

Inborn errors of metabolism are caused by genetic defects of an enzyme, a transport or regulatory protein with impact on the complex network of human metabolic pathways. We investigate the effect of these disorders on the metabolic network and its affected organs in various diseases. We are also investigating the influence of different therapies on inborn errors of metabolism together with their long-term complications. We thus gain deeper insight into underlying disease mechanisms, aiming to improve the quality of life for patients with inborn errors of metabolism.

Current research projects