Sphingolipidoses in Morocco: Chemical profiling for an affordable and rapid diagnosis strategy

• Published in: Prostaglandins & other lipid mediators Vol. 168; p. 106751
• Main Authors: Hammoud, M., Rodrigues, A.M.S., Assiri, I., Sabir, Es, Lafhal, K., Najeh, S., Jakani, M., Imad, N., Bourrahouat, A., Ait Sab, I., Elqadiry, R., Nassih, H., Outzourit, A., Elamiri, M., Maoulainine, F., Slitine Elidrissi, N., Bennaoui, F., Bourous, M., Mrhar, S., Essaadouni, L., Stien, D., Rada, N., Bouskraoui, M., Houël, E., Fdil, N.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.10.2023; Elsevier
• Subjects: Analytical chemistry; Bioengineering; Chemical Sciences; Endocrinology and metabolism; Human health and pathology; Life Sciences; Sphingolipidoses; Sulfatides; Tandem mass spectrometry; Thin-layer chromatography; Urine screening; Sphingolipidoses; Thin-layer chromatography; Tandem mass spectrometry; Sulfatides; Urine screening; Thin-Layer Chromatography
• ISSN: 1098-8823
• DOI: 10.1016/j.prostaglandins.2023.106751

Sphingolipidoses are a group of metabolic diseases in which lysosomal hydrolases dysfunction disrupt normal sphingolipids' metabolism, leading to excess accumulation in cellular compartments and excretion in urine. These pathologies represent a significant burden among Moroccan population, for which an easy access to enzymatic assays and genetic tests is not guaranteed. Parallel analytical methods thus have to be developed for preliminary screening. In this study, 107 patients were addressed to the metabolic platform of the Marrakesh Faculty of Medicine for diagnosis confirmation. Thin-Layer Chromatography was used as a first step to perform chemical profiling of the patients’ urinary lipids, allowing 36% of the patients to be efficiently oriented towards the adequate enzymatic assay. UPLC-MS/MS analyses of urinary sulfatides excreted in urines patient had been used to control the reliability of TLC analysis and to obtain more accurate information related to the sulfatides isoforms. This analytical process combining TLC with UPLC-MS/MS has enabled rapid and appropriate patient management in a reduced time and with reduced resources. [Display omitted] •The sphingolipidoses are a subgroup of lysosomal storage diseases caused by a defect in catabolism of sphingosine-containing lipids.•The severity of the sphingolipidoses is specific to the accumulated lipids: biomarkers.•the urinary sphingolipids characterization offers a reliable and rapid orientation towards specific enzyme assay and /or the mutation to be sought for a specific management.•The combination of TLC and LC-MSMS is a means to ensure a rapid, reliable and affordable confirmatory diagnosis for patients with sphingolipidoses.