{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T02:10:58Z","timestamp":1791943858611,"version":"4.3.4"},"reference-count":44,"publisher":"MDPI AG","issue":"21","license":[{"start":{"date-parts":[[2020,10,23]],"date-time":"2020-10-23T00:00:00Z","timestamp":1603411200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Shire\/Takeda Pharmaceutical","award":["8000157882"],"award-info":[{"award-number":["8000157882"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Gaucher disease (GD) is a rare autosomal recessive multisystemic lysosomal storage disorder presenting a marked phenotypic and genotypic variability. GD is caused by a deficiency in the glucocerebrosidase enzyme. The diagnosis of GD remains challenging because of the large clinical spectrum associated with the disease. Moreover, GD biomarkers are often not sensitive enough and can be subject to polymorphic variations. The main objective of this study was to perform a metabolomic study using an ultra-performance liquid chromatography system coupled to a time-of-flight mass spectrometer to identify novel GD biomarkers. Following the analysis of plasma samples from patients with GD, and age- and gender-matched control samples, supervised statistical analyses were used to find the best molecules to differentiate the two groups. Targeted biomarkers were structurally elucidated using accurate mass measurements and tandem mass spectrometry. This metabolomic study was successful in highlighting seven biomarkers associated with GD. Fragmentation tests revealed that these latter biomarkers were lyso-Gb1 (glucosylsphingosine) and four related analogs (with the following modifications on the sphingosine moiety: -C2H4, -H2, -H2+O, and +H2O), sphingosylphosphorylcholine, and N-palmitoyl-O-phosphocholineserine. Based on the plasma biomarker distribution, we suggest the evaluation of this GD biomarker profile, which might facilitate early diagnosis, monitoring, and follow-up of patients.<\/jats:p>","DOI":"10.3390\/ijms21217869","type":"journal-article","created":{"date-parts":[[2020,10,26]],"date-time":"2020-10-26T02:34:54Z","timestamp":1603679694000},"page":"7869","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Identification of a Reliable Biomarker Profile for the Diagnosis of Gaucher Disease Type 1 Patients Using a Mass Spectrometry-Based Metabolomic Approach"],"prefix":"10.3390","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8117-2247","authenticated-orcid":false,"given":"Iskren","family":"Menkovic","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics, Centre de Recherche-CHUS, Faculty of Medicine and Health Sciences, Universit\u00e9 de Sherbrooke, CIUSSS de l\u2019Estrie-CHUS, 3001, 12th Avenue North, Sherbrooke, QC J1H 5N4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6289-1839","authenticated-orcid":false,"given":"Michel","family":"Boutin","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics, Centre de Recherche-CHUS, Faculty of Medicine and Health Sciences, Universit\u00e9 de Sherbrooke, CIUSSS de l\u2019Estrie-CHUS, 3001, 12th Avenue North, Sherbrooke, QC J1H 5N4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdulfatah","family":"Alayoubi","sequence":"additional","affiliation":[{"name":"Divisions of Experimental Medicine and Hematology, Department of Medicine, Faculty of Medicine, McGill University, Lady Davis Institute for Medical Research, Jewish General Hospital, 3755, C\u00f4te Sainte-Catherine, Montreal, QC H3T 1E2, Canada"},{"name":"Department of Biochemistry and Molecular Medicine, College of Medicine, Taibah University, University Road, Madinah 42353, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7ois E.","family":"Mercier","sequence":"additional","affiliation":[{"name":"Divisions of Experimental Medicine and Hematology, Department of Medicine, Faculty of Medicine, McGill University, Lady Davis Institute for Medical Research, Jewish General Hospital, 3755, C\u00f4te Sainte-Catherine, Montreal, QC H3T 1E2, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georges-\u00c9tienne","family":"Rivard","sequence":"additional","affiliation":[{"name":"Division of Hemato-Oncology, Department of Pediatrics, Faculty of Medicine, Centre Hospitalier Universitaire Sainte-Justine, 3175, C\u00f4te Sainte-Catherine, Montreal, QC H3T 1C5, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3454-0588","authenticated-orcid":false,"given":"Christiane","family":"Auray-Blais","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics, Centre de Recherche-CHUS, Faculty of Medicine and Health Sciences, Universit\u00e9 de Sherbrooke, CIUSSS de l\u2019Estrie-CHUS, 3001, 12th Avenue North, Sherbrooke, QC J1H 5N4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,10,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1016\/j.expneurol.2017.09.010","article-title":"Insights into the structural biology of Gaucher disease","volume":"298","author":"Smith","year":"2017","journal-title":"Exp. 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