Our bodies use enzymes for metabolism. Children with inherited metabolic disorders (IMDs) lack specific enzymes due to genetic defects, which leads to the accumulation of harmful substances and serious health problems. Because diagnosis is often difficult, insight at the molecular level is necessary. This thesis describes the application of two analytical techniques from chemistry: mass spectrometry imaging (MSI) and infrared ion spectroscopy (IRIS). MSI maps the location of molecules in tissue based on their weight. Because weight alone is insufficient for exact identification, IRIS is used. Using the Free Electron Laser for Infrared eXperiments (FELIX), IRIS reveals the precise molecular structure. In this research, these techniques were combined to study metabolic diseases related to the amino acid lysine. This made it possible to localise and precisely identify disrupted molecules.
Jelle Schuurman (b. 1995) obtained his Bachelor’s degree in Chemistry from Saxion University and his Master’s in Physical Chemistry from Radboud University. In 2021, he began his PhD project at HFML-FELIX, focusing on mapping and identifying metabolites using Mass Spectrometry Imaging and Infrared Ion Spectroscopy. During his studies, Schuurman completed diverse internships ranging from lab-on-a-chip technology at Micronit and polymer production up-scaling at Artecs, to computational and solid-state chemistry research at Radboud University. He also gained prior experience at HFML-FELIX working on the spectroscopic characterisation of early 4d transition metal carbene cations, ZrCH2+ and NbCH2+. Beyond his research, he has served as a chemistry ambassador, a teaching assistant for various courses, and the PhD representative at FELIX.