title: Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients.
abstract: BACKGROUND
  Gaucher disease (GD) is the most common lysosomal storage disorder (LSD). Based on a deficient β-glucocerebrosidase it leads to an accumulation of glucosylceramide. Standard diagnostic procedures include measurement of enzyme activity, genetic testing as well as analysis of chitotriosidase and CCL18/PARC as biomarkers. Even though chitotriosidase is the most well-established biomarker in GD, it is not specific for GD. Furthermore, it may be false negative in a significant percentage of GD patients due to mutation. Additionally, chitotriosidase reflects the changes in the course of the disease belatedly. This further enhances the need for a reliable biomarker, especially for the monitoring of the disease and the impact of potential treatments.
  
  
  METHODS
  Here, we evaluated the sensitivity and specificity of the previously reported biomarker Glucosylsphingosine with regard to different control groups (healthy control vs. GD carriers vs. other LSDs).
  
  
  RESULTS
  Only GD patients displayed elevated levels of Glucosylsphingosine higher than 12 ng/ml whereas the comparison controls groups revealed concentrations below the pathological cut-off, verifying the specificity of Glucosylsphingosine as a biomarker for GD. In addition, we evaluated the biomarker before and during enzyme replacement therapy (ERT) in 19 patients, demonstrating a decrease in Glucosylsphingosine over time with the most pronounced reduction within the first 6 months of ERT. Furthermore, our data reveals a correlation between the medical consequence of specific mutations and Glucosylsphingosine.
  
  
  CONCLUSIONS
  In summary, Glucosylsphingosine is a very promising, reliable and specific biomarker for GD.
authors.affiliation: Albrecht-Kossel-Institute for Neuroregeneration, University of Rostock, Rostock, Germany.
authors.forename: Arndt
authors.initials: A
authors.lastname: Rolfs
authors.forename: Anne-Katrin
authors.initials: AK
authors.lastname: Giese
authors.forename: Ulrike
authors.initials: U
authors.lastname: Grittner
authors.forename: Daniel
authors.initials: D
authors.lastname: Mascher
authors.forename: Deborah
authors.initials: D
authors.lastname: Elstein
authors.forename: Ari
authors.initials: A
authors.lastname: Zimran
authors.forename: Tobias
authors.initials: T
authors.lastname: Böttcher
authors.forename: Jan
authors.initials: J
authors.lastname: Lukas
authors.forename: Rayk
authors.initials: R
authors.lastname: Hübner
authors.forename: Uta
authors.initials: U
authors.lastname: Gölnitz
authors.forename: Anja
authors.initials: A
authors.lastname: Röhle
authors.forename: Ales
authors.initials: A
authors.lastname: Dudesek
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Meyer
authors.forename: Matthias
authors.initials: M
authors.lastname: Wittstock
authors.forename: Hermann
authors.initials: H
authors.lastname: Mascher
mesh_terms: D000293:Adolescent; D000328:Adult; D015415:Biomarkers / Q000032:analysis / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis* / Q000378:metabolism*; D006801:Humans; D008297:Male; D008875:Middle Aged; D011609:Psychosine / Q000031:analogs & derivatives* / Q000032:analysis / Q000378:metabolism; D044465:White People; D055815:Young Adult
chemical_list: D015415:Biomarkers; D011609:Psychosine; C035742:sphingosyl beta-glucoside