{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T14:19:43Z","timestamp":1790518783878,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,11,26]],"date-time":"2019-11-26T00:00:00Z","timestamp":1574726400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Gaucher disease (GD) is an inherited metabolic disorder characterised by impaired catabolism of the glycosphingolipid, glucosylceramide. The deacetylated derivative, glucosylsphingosine (GluSph, lyso\u2010Gb1) has materialised as a biomarker for GD. Further appraisal of the clinical utility of GluSph is required in terms of its prognostic power to inform disease course and pre\u2010symptomatic testing. In this study, we show that plasma GluSph concentrations are significantly higher in GD patients with neuronopathic disease compared with non\u2010neuronopathic disease, even in the neonatal period. A neonate diagnosed at 1\u2009day of age (homozygous for N370S) due to an affected older sibling, returned GluSph of 70\u2009nmol\/L compared with 1070\u20102620\u2009nmol\/L for four neuronopathic patients diagnosed &lt;20\u2009days of age. Given this result shows promise for newborn screening, we developed a rapid, simple, and robust assay for GluSph in dried filter paper blood spots (DBS) and were able to detect 23 GD patients from 220 unaffected individuals. Neuronopathic GD patients also had significantly higher DBS concentrations of GluSph than their non\u2010neuronopathic counterparts. We went on to measure GluSph in tissue extracts prepared from chorionic villus sampling and confirmed concentrations were undetectable in unaffected tissue but elevated in GD tissue demonstrating utility in the prenatal setting. Additionally, GluSph is a pharmacodynamic biomarker, revealing a precipitous drop following initiation of enzyme replacement therapy. In conclusion, GluSph is a reliable and specific biomarker for GD and shows promise for prenatal diagnosis and DBS screening programmes.<\/jats:p>","DOI":"10.1002\/jimd.12192","type":"journal-article","created":{"date-parts":[[2019,11,10]],"date-time":"2019-11-10T07:13:51Z","timestamp":1573370031000},"page":"558-563","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":41,"title":["Expanding the clinical utility of glucosylsphingosine for Gaucher disease"],"prefix":"10.1002","volume":"43","author":[{"given":"Jennifer T.","family":"Saville","sequence":"first","affiliation":[{"name":"Genetics and Molecular Pathology SA Pathology [at Women's and Children's Hospital]  North Adelaide South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Belinda K.","family":"McDermott","sequence":"additional","affiliation":[{"name":"Genetics and Molecular Pathology SA Pathology [at Women's and Children's Hospital]  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Australia"},{"name":"School of Medicine University of Adelaide  Adelaide South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,11,26]]},"reference":[{"key":"e_1_2_8_2_1","first-page":"3635","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Beutler 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