2. Academic Validation
  3. Lysosphingolipid Quantitation in Plasma and Dried-Blood Spots Using Targeted High-Resolution Mass Spectrometry

Lysosphingolipid Quantitation in Plasma and Dried-Blood Spots Using Targeted High-Resolution Mass Spectrometry

  • J Clin Lab Anal. 2025 Jan;39(1):e25131. doi: 10.1002/jcla.25131.
Franklin Ducatez 1 2,  Wladimir Mauhin 3,  Jules Ottaviani 1,  Thomas Plichet 1,  Carine Pilon 1,  Olivier Lidove 3,  Fréderic Barbey 4,  Régine Perrichot 5,  Sabrina Vergnaud 6,  Marc G Berger 7 8,  Juliette Berger 7 8,  Nadia Belmatoug 9,  Yann Nadjar 10,  Foudil Lamari 11,  Esther Noel 12,  Stéphane Marret 2,  Soumeya Bekri 1,  Abdellah Tebani 1
Affiliations

Affiliations

  • 1 Department of Metabolic Biochemistry, Referral Center for Lysosomal Diseases, Normandie Univ, UNIROUEN, AIMS, SysMedLab, CHU Rouen, Rouen, France.
  • 2 Department of Neonatal Pediatrics, Intensive Care, and Neuropediatrics, Referral Center for Lysosomal Diseases, Normandie Univ, UNIROUEN, INSERM U1245, CHU Rouen, Rouen, France.
  • 3 Department of Internal Medicine-Rheumatology, Referral Center for Lysosomal Diseases, filière G2M, GH Diaconesses, Croix Saint Simon Hospital, Paris, France.
  • 4 Department of Immunology, University of Lausanne and University Hospital of Lausanne, Switzerland.
  • 5 Service de Néphrologie, Centre Hospitalier de Bretagne Atlantique, Vannes, France.
  • 6 UF Maladies Héréditaires Enzymatiques Rares-CGD, Institut de Biologie et de Pathologies, CHU de Grenoble Alpes, Grenoble, France.
  • 7 CHU Clermont-Ferrand, Hopital Estaing, CRB-Auvergne, Referral Center for Lysosomal Diseases, Clermont-Ferrand, France.
  • 8 Université Clermont Auvergne, EA 7453 CHELTER, Referral Center for Lysosomal Diseases, Clermont-Ferrand, France.
  • 9 Referral Center for Lysosomal Diseases, AP-HP Nord, Beaujon Hospital, Paris Cité University, filière G2M, MetabERN, Paris Cité University, France.
  • 10 Neurology Department, Referral Center for Neurometabolic and Lysosomal Diseases, filière G2M, Hôpital Pitié-Salpêtrière, Paris, France.
  • 11 AP-HP, Sorbonne Université, DMU Biogem-Metabolic Biochemistry Department, Referral Center for Lysosomal Diseases, filière G2M, Neurometabolic and Neurodegenerative Unit - Hôpital Pitié-Salpêtrière, Paris, France.
  • 12 University Hospital of Strasbourg, Strasbourg, BP, France.
PMID: 39727194 DOI: 10.1002/jcla.25131
Abstract

Background: Sphingolipidoses are rare inherited metabolic diseases belonging to lysosomal diseases. Early and accurate diagnosis is crucial for effective management and treatment. In this study, we aimed to develop a robust method to accelerate the diagnosis of these sphingolipidoses using dried blood spots and plasma.

Method: We employed high-resolution mass spectrometry coupled with liquid chromatography (LC-HRMS) to analyze 6 lysosphingolipids (GlcSph/Psychosine, LysoGb3, LysoSM, LysoSM509, LysoGM1, and LysoGM2) on dried blood spots and plasma samples. The method was used to measure the lysosphingolipid levels in a group of 30 control subjects and 204 samples from patients with sphingolipidoses (61 dB and 143 plasma) including Fabry, Gaucher, GM2 Gangliodosis, Niemann-Pick type A/B, and Niemann-Pick type C.

Results: The developed multiplex LC-HRMS method demonstrated linearity, precision, and quantification performances particularly for GlcSph/Psychosine and LysoGb3 on samples including controls and patients with sphingolipidoses. LysoSM showed recovery variability, wherease LysoGM1 and LysoGM2 showed higher matrix effect.

Conclusion: Our study presents a high-resolution mass spectrometry method along with the established cutoff values, providing a valuable tool for targeted screening, accurate diagnosis, and monitoring sphingolipidoses. Furthermore, DBS showed reliable results that lay the path to a broader adoption for screening these diseases.

Keywords

dried blood spot; lysosomal diseases; mass spectrometry; screening; sphingolipids.

Figures
Products
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z