Metabolic characterisation of plasma in juveniles with glycogen storage disease type 1a (GSD1a) by high-resolution 1H NMR spectroscopy
Autor(a) principal: | |
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Data de Publicação: | 2007 |
Outros Autores: | , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10316/8405 https://doi.org/10.1002/nbm.1073 |
Resumo: | This paper reports the first application of high-resolution 1H NMR spectroscopy to the plasma of five juveniles with glycogen storage disease type 1a (GSD1a), permitting the characterisation of the plasma metabolic profile and the identification of alterations relative to a set of control samples. The relaxation-weighted spectra allowed changes in low molecular weight compounds to be detected more clearly, whereas diffusion-edited spectra were used to characterise the plasma lipoprotein profile. Low molecular weight metabolites with altered levels in most patients were lactate, ketone bodies, acetate, creatine/creatinine and glucose. One of the patients showed distinctively lower glucose levels and higher lactate and ketone body contents, suggesting poorer metabolic control of the disease compared with other patients. In addition, a metabolite tentatively identified as alpha-hydroxyisobutyrate was only detected in the spectra of GSD1a plasmas, representing, therefore, a possible novel GSD1a biomarker. Total lipoprotein contents were higher in the plasma from GSD1a patients. Furthermore, lower HDL and higher VLDL + LDL levels also characterised the plasma of these patients. Preliminary results on principal component analysis of 1H NMR spectra allowed a clear separation between GSD1a and control plasmas. The specificity of the changes observed to GSD1a is discussed, together with the recognised potential of NMR and pattern recognition methods for aiding the diagnosis of GSD1a. Copyright © 2006 John Wiley & Sons, Ltd. |
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Metabolic characterisation of plasma in juveniles with glycogen storage disease type 1a (GSD1a) by high-resolution 1H NMR spectroscopyThis paper reports the first application of high-resolution 1H NMR spectroscopy to the plasma of five juveniles with glycogen storage disease type 1a (GSD1a), permitting the characterisation of the plasma metabolic profile and the identification of alterations relative to a set of control samples. The relaxation-weighted spectra allowed changes in low molecular weight compounds to be detected more clearly, whereas diffusion-edited spectra were used to characterise the plasma lipoprotein profile. Low molecular weight metabolites with altered levels in most patients were lactate, ketone bodies, acetate, creatine/creatinine and glucose. One of the patients showed distinctively lower glucose levels and higher lactate and ketone body contents, suggesting poorer metabolic control of the disease compared with other patients. In addition, a metabolite tentatively identified as alpha-hydroxyisobutyrate was only detected in the spectra of GSD1a plasmas, representing, therefore, a possible novel GSD1a biomarker. Total lipoprotein contents were higher in the plasma from GSD1a patients. Furthermore, lower HDL and higher VLDL + LDL levels also characterised the plasma of these patients. Preliminary results on principal component analysis of 1H NMR spectra allowed a clear separation between GSD1a and control plasmas. The specificity of the changes observed to GSD1a is discussed, together with the recognised potential of NMR and pattern recognition methods for aiding the diagnosis of GSD1a. Copyright © 2006 John Wiley & Sons, Ltd.2007info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttp://hdl.handle.net/10316/8405http://hdl.handle.net/10316/8405https://doi.org/10.1002/nbm.1073engNMR in Biomedicine. 20:4 (2007) 401-412Duarte, Iola F.Goodfellow, Brian J.Barros, AntónioJones, John G.Barosa, CristinaDiogo, LuísaGarcia, PaulaGil, Ana M.info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2021-08-24T10:19:22Zoai:estudogeral.uc.pt:10316/8405Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:43:31.953820Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Metabolic characterisation of plasma in juveniles with glycogen storage disease type 1a (GSD1a) by high-resolution 1H NMR spectroscopy |
title |
Metabolic characterisation of plasma in juveniles with glycogen storage disease type 1a (GSD1a) by high-resolution 1H NMR spectroscopy |
spellingShingle |
Metabolic characterisation of plasma in juveniles with glycogen storage disease type 1a (GSD1a) by high-resolution 1H NMR spectroscopy Duarte, Iola F. |
title_short |
Metabolic characterisation of plasma in juveniles with glycogen storage disease type 1a (GSD1a) by high-resolution 1H NMR spectroscopy |
title_full |
Metabolic characterisation of plasma in juveniles with glycogen storage disease type 1a (GSD1a) by high-resolution 1H NMR spectroscopy |
title_fullStr |
Metabolic characterisation of plasma in juveniles with glycogen storage disease type 1a (GSD1a) by high-resolution 1H NMR spectroscopy |
title_full_unstemmed |
Metabolic characterisation of plasma in juveniles with glycogen storage disease type 1a (GSD1a) by high-resolution 1H NMR spectroscopy |
title_sort |
Metabolic characterisation of plasma in juveniles with glycogen storage disease type 1a (GSD1a) by high-resolution 1H NMR spectroscopy |
author |
Duarte, Iola F. |
author_facet |
Duarte, Iola F. Goodfellow, Brian J. Barros, António Jones, John G. Barosa, Cristina Diogo, Luísa Garcia, Paula Gil, Ana M. |
author_role |
author |
author2 |
Goodfellow, Brian J. Barros, António Jones, John G. Barosa, Cristina Diogo, Luísa Garcia, Paula Gil, Ana M. |
author2_role |
author author author author author author author |
dc.contributor.author.fl_str_mv |
Duarte, Iola F. Goodfellow, Brian J. Barros, António Jones, John G. Barosa, Cristina Diogo, Luísa Garcia, Paula Gil, Ana M. |
description |
This paper reports the first application of high-resolution 1H NMR spectroscopy to the plasma of five juveniles with glycogen storage disease type 1a (GSD1a), permitting the characterisation of the plasma metabolic profile and the identification of alterations relative to a set of control samples. The relaxation-weighted spectra allowed changes in low molecular weight compounds to be detected more clearly, whereas diffusion-edited spectra were used to characterise the plasma lipoprotein profile. Low molecular weight metabolites with altered levels in most patients were lactate, ketone bodies, acetate, creatine/creatinine and glucose. One of the patients showed distinctively lower glucose levels and higher lactate and ketone body contents, suggesting poorer metabolic control of the disease compared with other patients. In addition, a metabolite tentatively identified as alpha-hydroxyisobutyrate was only detected in the spectra of GSD1a plasmas, representing, therefore, a possible novel GSD1a biomarker. Total lipoprotein contents were higher in the plasma from GSD1a patients. Furthermore, lower HDL and higher VLDL + LDL levels also characterised the plasma of these patients. Preliminary results on principal component analysis of 1H NMR spectra allowed a clear separation between GSD1a and control plasmas. The specificity of the changes observed to GSD1a is discussed, together with the recognised potential of NMR and pattern recognition methods for aiding the diagnosis of GSD1a. Copyright © 2006 John Wiley & Sons, Ltd. |
publishDate |
2007 |
dc.date.none.fl_str_mv |
2007 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10316/8405 http://hdl.handle.net/10316/8405 https://doi.org/10.1002/nbm.1073 |
url |
http://hdl.handle.net/10316/8405 https://doi.org/10.1002/nbm.1073 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
NMR in Biomedicine. 20:4 (2007) 401-412 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
repository.mail.fl_str_mv |
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1799133707277172736 |