Metabolic diseases are rare but serious diseases in which the metabolism is disrupted due to an error in the DNA. These diseases usually start at a (very) young age. The aim of this thesis was to detect these diseases more quickly and to better understand the origin of these diseases, with a focus on the brain. By measuring a patient's cerebrospinal fluid with a single method, many different metabolic diseases could be identified. It also revealed new abnormal compounds for some diseases, including a disease in which glucose does not pass from the blood to the brain properly. This results in a too low energy production in the brain. The newly discovered compounds showed that other processes in the brain are also disrupted by this disease. This is an important clue for finding the best treatment for this patient group.
Tessa Peters (1993) obtained her master's degree in Biomedical Sciences at Radboud University cum laude in 2016. After working for two years at the Radboud Biobank, she started her PhD research in 2018 at the Department of Neurology and the Translational Metabolic Laboratory of Radboud university medical center. She will defend her results in public on March 16, 2023.