Diagnosing Inborn Errors of Plasmalogen Biosynthesis by Liquid Chromatography Tandem Mass Spectrometry

This lecture offers the following credit types: CME, P.A.C.E.®, Florida
 

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.

Originally published on November 5, 2025

Lecture Presenter

Irene De Biase, MD, PhD, FACMG

Irene De Biase, MD, PhD, FACMG

Professor (Clinical)
University of Utah School of Medicine
Medical Director, Biochemical Genetics
ARUP Laboratories

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.

Objectives

After this presentation, participants will be able to:

  • Review plasmalogen structure and function
  • Define inborn errors of plasmalogen biosynthesis
  • Describe the key features of plasmalogen clinical testing
  • Explore the challenges in developing and validating testing to diagnose plasmalogen deficiency by LC-MS/MS
  • Demonstrate clinical utility of the LC-MS/MS method in diagnosing peroxisome biogenesis disorders

Sponsored by:

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