Welcome to Katja Benedikte Prestø Elgstøen's research group: Metabolic Molecular Biology
The main focus of our research is to unravel the underlying mechanisms of inborn errors of metabolism (IEM) (mainly monogenetic diseases) and other selected disease groups by studying metabolic changes by analyzing body fluids for either selected, or many thousands, of different compounds. Recruitment of IEMcases occurs through our national laboratory for metabolic diseases. We have the ability to identify disease provoking mutations, assisted by Sanger and high throughput exome and genome sequencing, study metabolic pathways by isotope labeling, predict the effect of mutations upon protein structure and measure function in wild type and mutated proteins. We have developed and implemented a state of the art LC-OrbitrapMS metabolomics platform suitable for studying thousands of metabolites (the metabolome), both knowns and unknowns, in body fluids such as whole blood (dried blood spots), urine, plasma/serum, bile, and tear fluid.