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Open AccessCommunication

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

Gaucher Unit, Shaare Zedek Medical Center, Hebrew University, Jerusalem 9103102, Israel
Faculty of Medicine, The Hebrew University of Jerusalem, Ein Kerem, Jerusalem 9112102, Israel
Centogene AG, Rostock 18055, Germany
Faculty of Medicine, University of Rostock, Rostock 18051, Germany
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2019, 20(12), 3033;
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))
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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-Text
Keywords: Gaucher disease; glucosylsphingosine; lyso-Gb1; biomarker; children 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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