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

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 sever...

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Autores principales: Hurvitz, Noa, Dinur, Tama, Becker-Cohen, Michal, Cozma, Claudia, Hovakimyan, Marina, Oppermann, Sebastian, Demuth, Laura, Rolfs, Arndt, Abramov, Aya, Zimran, Ari, Revel-Vilk, Shoshana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6627663/
https://www.ncbi.nlm.nih.gov/pubmed/31234327
http://dx.doi.org/10.3390/ijms20123033
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author Hurvitz, Noa
Dinur, Tama
Becker-Cohen, Michal
Cozma, Claudia
Hovakimyan, Marina
Oppermann, Sebastian
Demuth, Laura
Rolfs, Arndt
Abramov, Aya
Zimran, Ari
Revel-Vilk, Shoshana
author_facet Hurvitz, Noa
Dinur, Tama
Becker-Cohen, Michal
Cozma, Claudia
Hovakimyan, Marina
Oppermann, Sebastian
Demuth, Laura
Rolfs, Arndt
Abramov, Aya
Zimran, Ari
Revel-Vilk, Shoshana
author_sort Hurvitz, Noa
collection PubMed
description 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.
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spelling pubmed-66276632019-07-23 Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease Hurvitz, Noa Dinur, Tama Becker-Cohen, Michal Cozma, Claudia Hovakimyan, Marina Oppermann, Sebastian Demuth, Laura Rolfs, Arndt Abramov, Aya Zimran, Ari Revel-Vilk, Shoshana Int J Mol Sci Communication 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. MDPI 2019-06-21 /pmc/articles/PMC6627663/ /pubmed/31234327 http://dx.doi.org/10.3390/ijms20123033 Text en © 2019 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Communication
Hurvitz, Noa
Dinur, Tama
Becker-Cohen, Michal
Cozma, Claudia
Hovakimyan, Marina
Oppermann, Sebastian
Demuth, Laura
Rolfs, Arndt
Abramov, Aya
Zimran, Ari
Revel-Vilk, Shoshana
Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease
title Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease
title_full Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease
title_fullStr Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease
title_full_unstemmed Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease
title_short Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease
title_sort glucosylsphingosine (lyso-gb1) as a biomarker for monitoring treated and untreated children with gaucher disease
topic Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6627663/
https://www.ncbi.nlm.nih.gov/pubmed/31234327
http://dx.doi.org/10.3390/ijms20123033
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