Inborn errors of metabolism are rare diseases that often provide a typical pattern of elevated metabolites in biological fluids like urine, blood (plasma or serum) or cerebrospinal fluid. More than 1,000 different diseases are known. Because of the different chemical classes of those metabolites, the most commonly used methods are gas chromatography-mass spectrometry (GC/MS), liquid chromatography-mass spectrometry (LC/MS) and other chromatographic methods. However, by using NMR analysis, which is a highly reproducible and quantitative method, it is possible to quantify simultaneously metabolites from a wide range of different substance classes such as organic acids, amino acids, purines and pyrimidines, and other small molecules.
In this SelectScience webinar, Prof. Dr. med. Friedrich Trefz, Senior Medical Consultant for Bruker BioSpin, and Dr. Georg Frauendienst-Egger, Senior Medical Consultant Neonatology at the Clinical Center Reutlingen, will demonstrate the potential of computer-assisted interpretation and linking disease markers identified by NMR to the metagene database. The automatic generation of a list of potential diagnoses using a rule-based informatics approach will be shown.
Dr. Georg Frauendienst-Egger
Senior Consultant Neonatology Childrens Hospital Reutlingen
Dr. med. Friedrich Trefz
Senior Medical Consultant Bruker BioSpin