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Quantitative and Qualitative Method for Sphingomyelin by LC-MS Using Two Stable Isotopically Labeled Sphingomyelin Species
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Lysosphingolipid Quantitation in Plasma and Dried-Blood Spots Using Targeted High-Resolution Mass Spectrometry.

Franklin Ducatez1,2, Wladimir Mauhin3, Jules Ottaviani1

  • 1Department of Metabolic Biochemistry, Referral Center for Lysosomal Diseases, Normandie Univ, UNIROUEN, AIMS, SysMedLab, CHU Rouen, Rouen, France.

Journal of Clinical Laboratory Analysis
|December 27, 2024
PubMed
Summary

This study developed a high-resolution mass spectrometry method for rapid diagnosis of sphingolipidoses using dried blood spots and plasma. The method offers a valuable tool for early detection and monitoring of these rare inherited metabolic diseases.

Keywords:
dried blood spotlysosomal diseasesmass spectrometryscreeningsphingolipids

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Area of Science:

  • Biochemistry
  • Genetics
  • Medical Diagnostics

Background:

  • Sphingolipidoses are rare inherited lysosomal storage diseases.
  • Early and accurate diagnosis is critical for managing these conditions.
  • Current diagnostic methods can be time-consuming.

Purpose of the Study:

  • To develop a robust method for accelerating sphingolipidosis diagnosis.
  • To utilize dried blood spots (DBS) and plasma samples for analysis.
  • To analyze specific lysosphingolipids associated with sphingolipidoses.

Main Methods:

  • Employed liquid chromatography coupled with high-resolution mass spectrometry (LC-HRMS).
  • Analyzed six key lysosphingolipids: GlcSph/Psychosine, LysoGb3, LysoSM, LysoSM509, LysoGM1, and LysoGM2.
  • Tested on 30 control subjects and 204 patient samples (DBS and plasma).

Main Results:

  • The LC-HRMS method showed good linearity, precision, and quantification for GlcSph/Psychosine and LysoGb3.
  • Observed recovery variability for LysoSM and matrix effects for LysoGM1 and LysoGM2.
  • Validated the method on diverse patient samples including Fabry, Gaucher, GM2 Gangliodosis, and Niemann-Pick types A/B and C.

Conclusions:

  • A high-resolution mass spectrometry method with established cutoff values is presented.
  • This method serves as a valuable tool for targeted screening, accurate diagnosis, and monitoring of sphingolipidoses.
  • Dried blood spots (DBS) provide reliable results, supporting broader adoption for disease screening.