Quantitative Amino Acids Analysis for the Diagnosis and Follow Up of Inborn Errors of Metabolism
Inborn errors of metabolism are single gene disorders resulting from defects in metabolic pathways. Individually these disorders are rare, but collectively inborn errors of metabolism account for a significant portion of childhood disability and deaths. Moreover, they are in the differential diagnosis for common clinical emergencies, like neonatal sepsis and seizures. Correctly identifying these conditions is paramount, since prompt specific treatment is, in most cases, life-saving. Excluding a metabolic disorder requires several specific biochemical genetics tests, including the quantitative analysis of physiological amino acids in body fluids. This presentation will review the different methods used to quantify amino acids and amino acid-related compounds, and their use in the diagnosis and follow-up of inborn errors of metabolism.
Originally presented on August 15, 2016 in Salt Lake City, Utah.
Irene De Biase, MD, PhD, FACMG
Medical Director, Biochemical Genetics and Newborn Screening, ARUP Laboratories
Assistant Professor of Pathology, University of Utah School of Medicine
Dr. De Biase is an assistant professor of pathology at the University of Utah School of Medicine. She received her MD and PhD in cellular and molecular genetics at the Federico II University in Naples, Italy. Dr. De Biase served as a postdoctoral fellow in molecular genetics at the University of Oklahoma Health Sciences Center and as a postdoctoral fellow in clinical biochemical genetics at the Greenwood Genetics Center in South Carolina. She was a recipient of the SERGG student travel award and SIMD student travel award. She is a member of the Society for Inherited Metabolic Disorders and the American College of Medical Genetics and Genomics. Dr. De Biase’s research interests include lysosomal storage disorders and fatty acid oxidation disorders. Dr. De Biase is board certified in clinical biochemical genetics.
After this presentation, participants will be able to:
- Define Inborn Errors of Metabolism (IEM): Emphasis on disorders of amino acid metabolism and transport, and urea cycle disorders.
- Compare strengths and weaknesses among methods used to quantify physiological amino acids in body fluids.
- Evaluate the use of quantitative amino acid analysis for IEM diagnosis and follow-up.
University of Utah School of Medicine, Department of Pathology, and ARUP Laboratories