2. Academic Validation
  3. Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease

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

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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