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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...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2019
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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. |
format | Online Article Text |
id | pubmed-6627663 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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