Nuclear Magnetic Resonance

Urinary NMR Diagnostics for Inborn Errors of Metabolism Using Rule-based Interpretation (For Research Use Only)

This webinar took place on October 14, 2020

Webinar Overview

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.

Key Points

  • How to generate an NMR quantitative report on the basis of 150 metabolites
  • How to link this report to the metagene database
  • How clinical and general laboratory findings can be included and enhance the diagnostic power
  • How the method can be used to automatically get proposals for a patient’s disease
  • The value of a patient’s diagnosis repository for documentation and training

Who Should Attend?

  • Scientists and clinicians involved in the diagnosis and treatment of patients with inborn errors
  • Scientists and laboratory professionals interested in new NMR-based metabolomics applications


Dr. Georg Frauendienst-Egger

Senior Consultant Neonatology Childrens Hospital Reutlingen

1971-86: Chemical engineer University Hannover and Berlin. “Projekt Phenylketonurie” with C. Jacobs and E. Mönch
1980-86: Medical studies FU Berlin
1986 -92: Residency in Paediatrics and Neonatology Univ. Würzburg, Set-up of a metabolic outpatient clinic and laboratory, Board certification in Paeditrics and Neonatology
1992- Klinikum Reutlingen: Senior Consultant Neonatology, Set-up of a metabolic outpatient clinic and laboratory

Dr. med. Friedrich Trefz

Senior Medical Consultant Bruker BioSpin

Prof. Dr. med. Friedrich Trefz received his medical degree from the University of Heidelberg in 1972. After receiving his degree, he had training in the biochemical laboratory at the Children’s Hospital in Heidelberg, and in 1975 he started his training in pediatrics under Prof.Dr. Horst Bickel. In 1983 he received his degree in Pediatrics, and in1985 he became the head of the “Sektion Pädiatrische Stoffwechselkrankeheiten”at the University Children’s Hospital of Heidelberg. Later in 2009, he received an additional degree in Pediatric Diabetes and Endocrinology. Prof. Dr. med. Trefz has received many grants from the German Federal Ministry of Education and Research, from 1994-2002 he was principal investigator of the International Maternal PKU study together with Prof. Richard Koch (Los Angeles), and Prof.Harvey Levy (Boston). He also was principal German investigator in the International Sapropterin Study from 2005 to 2007.In 1992 he moved from Heidelberg to Reutlingen and became the head of the department of pediatrics at the Klinik für Kinder und Jugendmedizin at Klinikum am Steinenberg, Reutlingen, School of Medicine, University of Tuebingen. In 2010 he retired from the Children’s Hospital in Reutlingen and became head of the outpatient medical Centre for Women, Children and Adolescents, Kreiskliniken Reutlingen, in Gammertingen, Germany. In 4/2015 he went back to the University Clinic of Heidelberg and established under the supervision of Prof. Dr. Georg Hoffmann and Prof. Dr. Peter Nawroth the adult outpatient clinic for rare metabolic disorders (up to12/2017).In 2018 he founded a private company for “Metabolic Consulting and Research” to further support knowledge and research in inborn errors of metabolism. He has more than 45 years of experience especially in treatment of patients with phenylketonuria.