Elevated holo-transcobalamin in Gaucher disease type II : a case report

Gaucher disease (GD), one of the most common lysosomal disorders, is caused by deficiency of β-glucocerebrosidase. Based on the presence and severity of neurological complications, GD is classified into types I, II (the most severe form), and III. Abnormalities in systemic markers of vitamin B12 (B1...

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Autores: Basgalupp, Suelen Porto, Donis, Karina Carvalho, Siebert, Marina, Vairo, Filippo Pinto e, Artigalas, Osvaldo Alfonso Pinto, Pinto, Louise Lapagesse de Camargo, Behringer, Sidney, Spiekerkotter, Ute, Hannibal, Luciana, Schwartz, Ida Vanessa Doederlein
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2021
País:Brasil
Institución:Universidade Federal do Rio Grande do Sul (UFRGS)
Repositorio:Repositório Institucional da UFRGS
Idioma:inglés
OAI Identifier:oai:www.lume.ufrgs.br:10183/232184
Acceso en línea:http://hdl.handle.net/10183/232184
Access Level:acceso abierto
Palabra clave:Biomarcadores
Doença de Gaucher
Macrófagos
Biomarker
Gaucher disease type II
Holo-TC
Macrophage
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spelling 2021-11-25T04:37:13Z20211552-4833http://hdl.handle.net/10183/232184001133134Gaucher disease (GD), one of the most common lysosomal disorders, is caused by deficiency of β-glucocerebrosidase. Based on the presence and severity of neurological complications, GD is classified into types I, II (the most severe form), and III. Abnormalities in systemic markers of vitamin B12 (B12) metabolism have been reported in GD type I patients, suggesting a higher prevalence of B12 deficiency in these patients. A 2-month-old male with GD type II was admitted to the hospital presenting jaundice, hepatosplenomegaly, and ichthyosis. At admission, cholestasis and ascites, abnormal liver function enzymes, prolonged prothrombin time, and high levels of B12 were confirmed. Analysis of biomarkers of B12 status revealed elevated B12 and holo-transcobalamin (holo-TC) levels. The B12 profile found in our patient is the opposite to what is described for GD type I patients. Holo-TC may increase in inflammatory states or due to liver diseases. In GD, the accumulation of glucocerebroside may be a trigger that initiates a systemic inflammatory reaction, characterized by macrophage activation. We suggest higher levels of holo-TC could be associated with a more severe (neuronopathic) GD, and be a biomarker of GD type II.application/pdfengAmerican journal of medical genetics. Part A. Hoboken. Vol. 185A (2021), p. 2471–2476.BiomarcadoresDoença de GaucherMacrófagosBiomarkerGaucher disease type IIHolo-TCMacrophageElevated holo-transcobalamin in Gaucher disease type II : a case reportEstrangeiroinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSBasgalupp, Suelen PortoDonis, Karina CarvalhoSiebert, MarinaVairo, Filippo Pinto eArtigalas, Osvaldo Alfonso PintoPinto, Louise Lapagesse de CamargoBehringer, SidneySpiekerkotter, UteHannibal, LucianaSchwartz, Ida Vanessa DoederleinTEXT001133134.pdf.txt001133134.pdf.txtExtracted Texttext/plain32271http://www.lume.ufrgs.br/bitstream/10183/232184/2/001133134.pdf.txt76fc3a0d1be057c48bf6a598e0b87c6fMD52ORIGINAL001133134.pdfTexto completo (inglês)application/pdf813298http://www.lume.ufrgs.br/bitstream/10183/232184/1/001133134.pdf9b37185c246d96807f607cb8f079ff99MD5110183/2321842021-12-06 05:39:59.134998oai:www.lume.ufrgs.br:10183/232184Repositório InstitucionalPUBhttps://lume.ufrgs.br/oai/requestlume@ufrgs.bropendoar:2021-12-06T07:39:59Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false
dc.title.pt_BR.fl_str_mv Elevated holo-transcobalamin in Gaucher disease type II : a case report
title Elevated holo-transcobalamin in Gaucher disease type II : a case report
spellingShingle Elevated holo-transcobalamin in Gaucher disease type II : a case report
Basgalupp, Suelen Porto
Biomarcadores
Doença de Gaucher
Macrófagos
Biomarker
Gaucher disease type II
Holo-TC
Macrophage
title_short Elevated holo-transcobalamin in Gaucher disease type II : a case report
title_full Elevated holo-transcobalamin in Gaucher disease type II : a case report
title_fullStr Elevated holo-transcobalamin in Gaucher disease type II : a case report
title_full_unstemmed Elevated holo-transcobalamin in Gaucher disease type II : a case report
title_sort Elevated holo-transcobalamin in Gaucher disease type II : a case report
dc.creator.none.fl_str_mv Basgalupp, Suelen Porto
Donis, Karina Carvalho
Siebert, Marina
Vairo, Filippo Pinto e
Artigalas, Osvaldo Alfonso Pinto
Pinto, Louise Lapagesse de Camargo
Behringer, Sidney
Spiekerkotter, Ute
Hannibal, Luciana
Schwartz, Ida Vanessa Doederlein
author Basgalupp, Suelen Porto
author_facet Basgalupp, Suelen Porto
Donis, Karina Carvalho
Siebert, Marina
Vairo, Filippo Pinto e
Artigalas, Osvaldo Alfonso Pinto
Pinto, Louise Lapagesse de Camargo
Behringer, Sidney
Spiekerkotter, Ute
Hannibal, Luciana
Schwartz, Ida Vanessa Doederlein
author_role author
author2 Donis, Karina Carvalho
Siebert, Marina
Vairo, Filippo Pinto e
Artigalas, Osvaldo Alfonso Pinto
Pinto, Louise Lapagesse de Camargo
Behringer, Sidney
Spiekerkotter, Ute
Hannibal, Luciana
Schwartz, Ida Vanessa Doederlein
author2_role author
author
author
author
author
author
author
author
author
dc.subject.por.fl_str_mv Biomarcadores
Doença de Gaucher
Macrófagos
topic Biomarcadores
Doença de Gaucher
Macrófagos
Biomarker
Gaucher disease type II
Holo-TC
Macrophage
dc.subject.eng.fl_str_mv Biomarker
Gaucher disease type II
Holo-TC
Macrophage
description Gaucher disease (GD), one of the most common lysosomal disorders, is caused by deficiency of β-glucocerebrosidase. Based on the presence and severity of neurological complications, GD is classified into types I, II (the most severe form), and III. Abnormalities in systemic markers of vitamin B12 (B12) metabolism have been reported in GD type I patients, suggesting a higher prevalence of B12 deficiency in these patients. A 2-month-old male with GD type II was admitted to the hospital presenting jaundice, hepatosplenomegaly, and ichthyosis. At admission, cholestasis and ascites, abnormal liver function enzymes, prolonged prothrombin time, and high levels of B12 were confirmed. Analysis of biomarkers of B12 status revealed elevated B12 and holo-transcobalamin (holo-TC) levels. The B12 profile found in our patient is the opposite to what is described for GD type I patients. Holo-TC may increase in inflammatory states or due to liver diseases. In GD, the accumulation of glucocerebroside may be a trigger that initiates a systemic inflammatory reaction, characterized by macrophage activation. We suggest higher levels of holo-TC could be associated with a more severe (neuronopathic) GD, and be a biomarker of GD type II.
publishDate 2021
dc.date.accessioned.fl_str_mv 2021-11-25T04:37:13Z
dc.date.issued.fl_str_mv 2021
dc.type.driver.fl_str_mv Estrangeiro
info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
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status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10183/232184
dc.identifier.issn.pt_BR.fl_str_mv 1552-4833
dc.identifier.nrb.pt_BR.fl_str_mv 001133134
identifier_str_mv 1552-4833
001133134
url http://hdl.handle.net/10183/232184
dc.language.iso.fl_str_mv eng
language eng
dc.relation.ispartof.pt_BR.fl_str_mv American journal of medical genetics. Part A. Hoboken. Vol. 185A (2021), p. 2471–2476.
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Repositório Institucional da UFRGS
instname:Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
instname_str Universidade Federal do Rio Grande do Sul (UFRGS)
instacron_str UFRGS
institution UFRGS
reponame_str Repositório Institucional da UFRGS
collection Repositório Institucional da UFRGS
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