Connect Sign InQuantitative 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.
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.
