Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease

  • Int J Mol Sci. 2019 Jun 21;20(12):3033. doi: 10.3390/ijms20123033.
Noa Hurvitz  1  2 ,  Tama Dinur  3 ,  Michal Becker-Cohen  4 ,  Claudia Cozma  5 ,  Marina Hovakimyan  6 ,  Sebastian Oppermann  7 ,  Laura Demuth  8 ,  Arndt Rolfs  9  10 ,  Aya Abramov  11  12 ,  Ari Zimran  13  14 ,  Shoshana Revel-Vilk  15  16
Affiliations
  • 1. Gaucher Unit, Shaare Zedek Medical Center, Hebrew University, Jerusalem 9103102, Israel. [email protected].
  • 2. Faculty of Medicine, The Hebrew University of Jerusalem, Ein Kerem, Jerusalem 9112102, Israel. [email protected].
  • 3. Gaucher Unit, Shaare Zedek Medical Center, Hebrew University, Jerusalem 9103102, Israel. [email protected].
  • 4. Gaucher Unit, Shaare Zedek Medical Center, Hebrew University, Jerusalem 9103102, Israel. [email protected].
  • 5. Centogene AG, Rostock 18055, Germany. [email protected].
  • 6. Centogene AG, Rostock 18055, Germany. [email protected].
  • 7. Centogene AG, Rostock 18055, Germany. [email protected].
  • 8. Centogene AG, Rostock 18055, Germany. [email protected].
  • 9. Centogene AG, Rostock 18055, Germany. [email protected].
  • 10. Faculty of Medicine, University of Rostock, Rostock 18051, Germany. [email protected].
  • 11. Gaucher Unit, Shaare Zedek Medical Center, Hebrew University, Jerusalem 9103102, Israel. [email protected].
  • 12. Faculty of Medicine, The Hebrew University of Jerusalem, Ein Kerem, Jerusalem 9112102, Israel. [email protected].
  • 13. Gaucher Unit, Shaare Zedek Medical Center, Hebrew University, Jerusalem 9103102, Israel. [email protected].
  • 14. Faculty of Medicine, The Hebrew University of Jerusalem, Ein Kerem, Jerusalem 9112102, Israel. [email protected].
  • 15. Gaucher Unit, Shaare Zedek Medical Center, Hebrew University, Jerusalem 9103102, Israel. [email protected].
  • 16. Faculty of Medicine, The Hebrew University of Jerusalem, Ein Kerem, Jerusalem 9112102, Israel. [email protected].
PMID: 31234327 DOI: 10.3390/ijms20123033
Abstract

The role of glucosylsphingosine (lyso-Gb1), a downstream metabolic product of glucosylceramide, for monitoring treated and untreated children with Gaucher disease (GD) has not yet been studied. We reviewed the clinical charts of 81 children (<18 years), 35 with mild type 1 GD (GD1), 34 with severe GD1 and 12 with type 3 GD (GD3), followed at Shaare Zedek Medical Center between 2014-2018. Disease severity for GD1 was based on genotypes. Forty children (87%) with severe GD1 and GD3 received enzyme replacement therapy (ERT) compared to two children (6%) with mild GD1. Lyso-Gb1 measurements were conducted on dried blood spot samples taken at each clinic visit. Lyso-Gb1 levels were significantly lower in children with mild compared to severe GD1 (p = 0.009). In untreated children, lyso-Gb1 levels were inversely correlated with platelet counts. During follow-up, lyso-Gb1 increased in almost 50% of untreated children, more commonly in younger children. In treated children, lyso-Gb1 levels were inversely correlated with Hemoglobin levels. The increase of lyso-Gb1 while receiving ERT, seen in eight children, was partly associated with compliance and weight gain. Lyso-Gb1 seems to be a useful biomarker for monitoring children with GD and should be included in the routine follow-up. Progressive increase in lyso-Gb1 levels in untreated children suggests ERT initiation.

Keywords
Gaucher disease; biomarker; children; glucosylsphingosine; lyso-Gb1.
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