Video Lecture Maternal Metabolic Disorders Identified Through Newborn Screening

Metabolic disorders present with a wide variability in clinical symptoms, from failure to thrive, seizures, mental retardation, organ failure, and death. Usually they present in infancy, but the onset of symptoms can occur at any time in life, even late adulthood, with the same severe consequences seen in early onset disease. Newborn screening has presented an opportunity to identify previously unknown conditions in mothers as well as their children. Dr. Pasquali addresses specific metabolic conditions, including carnitine and Vitamin B12 deficiencies, that are identified by newborn screening and discusses the clinical implications associated with these conditions

Originally presented March 4, 2010 at the 3rd annual Update in Laboratory and Clinical Medicine in Park City, Utah

Lecture Presenter

Marzia Pasquali, PhD Marzia Pasquali, PhD
Professor, Department of Pathology, University of Utah
Medical Director, Biochemical Genetics and Newborn Screening, ARUP Laboratories
Chair, Children's Health Improvement through Laboratory Diagnosis (CHILDx)

Dr. Pasquali has focused her work on the development and improvement of tests to diagnose and monitor patients with inherited metabolic disorders. She has an interest in applying new technologies to detect pre-symptomatic metabolic disorders through newborn screening. Her research work has also included the study of disorders of collagen metabolism, focusing on Ehlers-Danlos Syndrome type VI/kyphoscoliotic type. She is studying an animal model of the disease to understand the mechanism of formation of collagen cross-links in these patients.

Objectives

After this presentation, attendees will be able to:

  • Discuss metabolic disorders and newborn screening
  • Review maternal diseases identified by newborn screening
  • Discuss clinical implications

Sponsored by:

University of Utah School of Medicine and ARUP Laboratories