{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,23]],"date-time":"2026-04-23T02:01:38Z","timestamp":1776909698185,"version":"3.51.2"},"reference-count":26,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2024,7,12]],"date-time":"2024-07-12T00:00:00Z","timestamp":1720742400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Medical Research Agency (Poland)","award":["2021\/ABM\/02\/00014"],"award-info":[{"award-number":["2021\/ABM\/02\/00014"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biomolecules"],"abstract":"<jats:p>Background: Gaucher disease (GD) is a lysosomal storage disorder caused by mutations in the GBA1 gene, leading to \u03b2-glucocerebrosidase deficiency and glucosylceramide accumulation. Methods: We analyzed short- and long-term dynamics of lyso-glucosylceramide (lyso-Gb1) in a large cohort of GD patients undergoing enzyme replacement therapy (ERT). Results: Eight-years analysis of lyso-Gb1 revealed statistically insignificant variability in the biomarker across the years and relatively high individual variability in patients\u2019 results. GD type 1 (GD1) patients exhibited higher variability compared to GD type 3 (GD3) patients (coefficients of variation: 34% and 23%, respectively; p-value = 0.0003). We also investigated the short-term response of the biomarker to enzyme replacement therapy (ERT), measuring lyso-Gb1 right before and 30 min after treatment administration. We tested 20 GD patients (16 GD1, 4 GD3) and observed a rapid and significant reduction in lyso-Gb1 levels (average decrease of 17%; p-value &lt; 0.0001). This immediate response reaffirms the efficacy of ERT in reducing substrate accumulation in GD patients but, on the other hand, suggests the biomarker\u2019s instability between the infusions. Conclusions: These findings underscore lyso-Gb1\u2019s potential as a reliable biomarker for monitoring efficacy of treatment. However, individual variability and dry blood spot (DBS) testing limitations urge a further refinement in clinical application. Our study contributes valuable insights into GD patient management, emphasizing the evolving role of biomarkers in personalized medicine.<\/jats:p>","DOI":"10.3390\/biom14070842","type":"journal-article","created":{"date-parts":[[2024,7,12]],"date-time":"2024-07-12T16:23:41Z","timestamp":1720801421000},"page":"842","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Long- and Short-Term Glucosphingosine (lyso-Gb1) Dynamics in Gaucher Patients Undergoing Enzyme Replacement Therapy"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8537-4404","authenticated-orcid":false,"given":"Pawel","family":"Dubiela","sequence":"first","affiliation":[{"name":"Department of Regenerative Medicine and Immune Regulation, Medical University of Bialystok, 15-089 Bialystok, Poland"},{"name":"Department of Pathophysiology and Allergy Research, Medical University of Vienna, 1090 Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paulina","family":"Szymanska-Rozek","sequence":"additional","affiliation":[{"name":"Faculty of Mathematics, Informatics and Mechanics, University of Warsaw, 00-927 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9667-5042","authenticated-orcid":false,"given":"Piotr","family":"Hasinski","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine and Gastroenterology, Municipal Hospital, 43-100 Tychy, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1849-8375","authenticated-orcid":false,"given":"Patryk","family":"Lipinski","sequence":"additional","affiliation":[{"name":"Institute of Clinical Sciences, Maria Sk\u0142odowska-Curie Medical Academy, 00-136 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Grazina","family":"Kleinotiene","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Vilnius University, 03101 Vilnius, Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9298-0688","authenticated-orcid":false,"given":"Dorota","family":"Giersz","sequence":"additional","affiliation":[{"name":"Department of Regenerative Medicine and Immune Regulation, Medical University of Bialystok, 15-089 Bialystok, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8935-1768","authenticated-orcid":false,"given":"Anna","family":"Tylki-Szymanska","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Nutrition and Metabolic Diseases, The Children\u2019s Memorial Health Institute, 04-736 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,7,12]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1002\/humu.20676","article-title":"Gaucher disease: Mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)","volume":"29","author":"Hruska","year":"2008","journal-title":"Hum. 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