Diagnostic Approaches to Rare Genetic Disorders


Inborn errors of metabolism (IEMs) are genetic disorders characterized by a perturbation in a metabolic pathway. Many IEMs can be treated with dietary modifications, pharmacologic supplements, and other therapies. The treatment is more effective when initiated early, before any organ or cell damage has occurred. The prompt diagnosis of IEMs is, therefore, critical to a good outcome. Newborn screening is very successful in identifying infants at birth with known IEMs. Advances in technology and scientific discoveries have broadened the group of rare disorders caused by a metabolic perturbation that can be detected using old and new methodologies. This lecture will focus on new diagnostic approaches for rare disorders and will highlight the importance of integrating clinical, biochemical, and molecular findings.

Originally presented on September 29, 2022, in Salt Lake City, Utah.

Lecture Presenter

Marzia Pasquali, PhD, ABMGG

Marzia Pasquali, PhD, ABMGG

Professor of Pathology
University of Utah School of Medicine
Section Chief, Biochemical Genetics and Newborn Screening
ARUP Laboratories

Dr. Pasquali is a professor of pathology and co-director of the fellowship training program in biochemical genetics at the University of Utah School of Medicine. Dr. Pasquali earned her degrees of doctor in pharmaceutical chemistry and technology and pharmacy doctor at the University of Parma School of Pharmacy in Italy. Dr. Pasquali trained in biochemical genetics at Emory University, where she later served as the co-director of the Biochemical Genetics Laboratory. Dr. Pasquali is board certified in clinical biochemical genetics. She is a member of the Society for Inherited Metabolic Disorders, the American College of Medical Genetics and Genomics, and several other professional societies. Her research interests include newborn screening, lysosomal storage disorders, and disorders of carnitine as well as creatine metabolism and transport.


After this presentation, participants will be able to:

  • Describe inborn errors of metabolism and the principles of treatment
  • Discuss the use of metabolomics in clinical and research settings
  • Present and discuss examples of rare diagnoses

Sponsored by:

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