Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease
Noa Hurvitz 1,2, Tama Dinur 1, Michal Becker-Cohen 1, Claudia Cozma 3, Marina Hovakimyan 3, Sebastian Oppermann 3, Laura Demuth 3, Arndt Rolfs 3,4, Aya Abramov 1,2, Ari Zimran 1,2
and Shoshana Revel-Vilk 1,2,*
and Shoshana Revel-Vilk 1,2,*
1
Gaucher Unit, Shaare Zedek Medical Center, Hebrew University, Jerusalem 9103102, Israel
2
Faculty of Medicine, The Hebrew University of Jerusalem, Ein Kerem, Jerusalem 9112102, Israel
3
Centogene AG, Rostock 18055, Germany
4
Faculty of Medicine, University of Rostock, Rostock 18051, Germany
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2019, 20(12), 3033; https://doi.org/10.3390/ijms20123033
Received: 29 May 2019 / Revised: 17 June 2019 / Accepted: 19 June 2019 / Published: 21 June 2019
(This article belongs to the Special Issue Rare Diseases: Molecular Mechanisms and Therapeutic Strategies (II))
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. View Full-TextKeywords:
Gaucher disease; glucosylsphingosine; lyso-Gb1; biomarker; children
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Hurvitz, N.; Dinur, T.; Becker-Cohen, M.; Cozma, C.; Hovakimyan, M.; Oppermann, S.; Demuth, L.; Rolfs, A.; Abramov, A.; Zimran, A.; Revel-Vilk, S. Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease. Int. J. Mol. Sci. 2019, 20, 3033.
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