Screening for Inborn Errors of Metabolism Using Untargeted Metabolomic Profiling


Metabolomics is used to measure small biochemical compounds in biological fluids and provides a comprehensive picture of perturbations in metabolic pathways. Untargeted metabolic profiling using mass spectrometry has the potential to enhance the detection of inborn errors of metabolism (IEM). This presentation describes the analysis of metabolic patterns in clinical specimens to assist in diagnosis of rare disorders.

Originally presented on September 20, 2017 in Salt Lake City, Utah.

Lecture Presenter

V. Reid Sutton, MD

V. Reid Sutton, MD

Professor, Director Residency & Fellowship Programs Department of Molecular & Human Genetics
Baylor College of Medicine & Texas Children's Hospital

V. Reid Sutton, M.D. is a physician, scientist, clinical and biochemical geneticist with expertise in the diagnosis and management of inborn errors of metabolism. He is a professor in the Department of Molecular & Human Genetics at Baylor College of Medicine, the Medical Director of the Baylor Biochemical Genetics Laboratory and the Director of the Inborn Errors of Metabolism service at Texas Children’s Hospital. He has authored numerous peer reviewed articles and chapters on inborn errors of metabolism. These range from basic science publications to patient care and laboratory management guidelines running the gamut from common diseases, such as urea cycle disorders, organic acidemias, fatty acid oxidation disorders, to rare conditions such as creatine deficiency syndromes and disorders of purine and pyrimidine biosynthesis and degradation. He has served on the CDC Clinical Laboratory Advisory Committee for Biochemical Genetics and the Texas Newborn Screening Advisory Committee. He is currently the Chair of the American Board of Medical Genetics and Genomics and is a past Book Chief for the Biochemical Genetics certification examination and has served as a faculty member at the Society of Inherited Metabolic Diseases, North American Metabolic Academy.


After this presentation, participants will be able to:

  • Attendees will be able to list disorders that can be identified with untargeted metabolomic profiling of small molecules (50-1500 Daltons).
  • Attendees will be able to list situations in which metabolomics profiling may aid in the interpretation of variants of uncertain significance found on DNA testing.
  • Attendees will be able to describe situations where metabolomics profiling has identified novel biomarkers for disease and led to new discoveries that could impact treatment.

Sponsored by:

University of Utah School of Medicine, Department of Pathology, and ARUP Laboratories