Connect Sign InDiagnosing Inborn Errors of Plasmalogen Biosynthesis by Liquid Chromatography Tandem Mass Spectrometry
Peroxisomal plasmalogen synthesis is defective in rhizomelic chondrodysplasia punctata (RCDP) and Zellweger spectrum disorders (ZSDs). Plasmalogens are traditionally detected in packed red blood cells (RBCs) by GC-MS. However, this method cannot distinguish individual plasmalogen species. Additionally, it is a lengthy and complex assay. We have developed a liquid chromatography-tandem mass spectrometry (LC-MS/MS) method to quantify the most abundant ethanolamine plasmalogens to aid in diagnosing RCDP and ZSDs. This presentation will describe the challenges in developing and validating plasmalogen testing by LC-MS/MS. Moreover, we will review our data from controls, known patients, and RCDP1 mouse models demonstrating the clinical utility of the LC-MS/MS method in diagnosing and monitoring inborn errors of plasmalogen synthesis.
Dr. De Biase is a professor (clinical) at the University of Utah School of Medicine. She received her MD and PhD in cellular and molecular genetics at the University of Naples Federico II 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 Genetic 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 peroxisomal disorders. Dr. De Biase is board certified in clinical biochemical genetics.
