International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management

Detalhes bibliográficos
Autor(a) principal: Altassan, Ruqaiah
Data de Publicação: 2020
Outros Autores: Radenkovic, Silvia, Edmondson, Andrew C., Barone, Rita, Brasil, Sandra, Cechova, Anna, Coman, David, Donoghue, Sarah, Falkenstein, Kristina, Ferreira, Vanessa, Ferreira, Carlos, Fiumara, Agata, Francisco, Rita, Freeze, Hudson, Grunewald, Stephanie, Honzik, Tomas, Jaeken, Jaak, Krasnewich, Donna, Lam, Christina, Lee, Joy, Lefeber, Dirk, Marques‐da‐Silva, Dorinda, Pascoal, Carlota, Quelhas, D, Raymond, Kimiyo M., Rymen, Daisy, Seroczynska, Malgorzata, Serrano, Mercedes, Sykut‐Cegielska, Jolanta, Thiel, Christian, Tort, Frederic, Vals, Mari‐Anne, Videira, Paula, Voermans, Nicol, Witters, Peter, Morava, Eva
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.16/2810
Resumo: Phosphoglucomutase 1 (PGM1) deficiency is a rare genetic disorder that affects glycogen metabolism, glycolysis, and protein glycosylation. Previously known as GSD XIV, it was recently reclassified as a congenital disorder of glycosylation, PGM1-CDG. PGM1-CDG usually manifests as a multisystem disease. Most patients present as infants with cleft palate, liver function abnormalities and hypoglycemia, but some patients present in adulthood with isolated muscle involvement. Some patients develop life-threatening cardiomyopathy. Unlike most other CDG, PGM1-CDG has an effective treatment option, d-galactose, which has been shown to improve many of the patients' symptoms. Therefore, early diagnosis and initiation of treatment for PGM1-CDG patients are crucial decisions. In this article, our group of international experts suggests diagnostic, follow-up, and management guidelines for PGM1-CDG. These guidelines are based on the best available evidence-based data and experts' opinions aiming to provide a practical resource for health care providers to facilitate successful diagnosis and optimal management of PGM1-CDG patients.
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spelling International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and managementd-galactosePGM1-CDGcongenital disorder of glycosylationmanagement guidelinesphosphoglucomutase 1 deficiencyPhosphoglucomutase 1 (PGM1) deficiency is a rare genetic disorder that affects glycogen metabolism, glycolysis, and protein glycosylation. Previously known as GSD XIV, it was recently reclassified as a congenital disorder of glycosylation, PGM1-CDG. PGM1-CDG usually manifests as a multisystem disease. Most patients present as infants with cleft palate, liver function abnormalities and hypoglycemia, but some patients present in adulthood with isolated muscle involvement. Some patients develop life-threatening cardiomyopathy. Unlike most other CDG, PGM1-CDG has an effective treatment option, d-galactose, which has been shown to improve many of the patients' symptoms. Therefore, early diagnosis and initiation of treatment for PGM1-CDG patients are crucial decisions. In this article, our group of international experts suggests diagnostic, follow-up, and management guidelines for PGM1-CDG. These guidelines are based on the best available evidence-based data and experts' opinions aiming to provide a practical resource for health care providers to facilitate successful diagnosis and optimal management of PGM1-CDG patients.WileyRepositório Científico do Centro Hospitalar Universitário de Santo AntónioAltassan, RuqaiahRadenkovic, SilviaEdmondson, Andrew C.Barone, RitaBrasil, SandraCechova, AnnaComan, DavidDonoghue, SarahFalkenstein, KristinaFerreira, VanessaFerreira, CarlosFiumara, AgataFrancisco, RitaFreeze, HudsonGrunewald, StephanieHonzik, TomasJaeken, JaakKrasnewich, DonnaLam, ChristinaLee, JoyLefeber, DirkMarques‐da‐Silva, DorindaPascoal, CarlotaQuelhas, DRaymond, Kimiyo M.Rymen, DaisySeroczynska, MalgorzataSerrano, MercedesSykut‐Cegielska, JolantaThiel, ChristianTort, FredericVals, Mari‐AnneVideira, PaulaVoermans, NicolWitters, PeterMorava, Eva2023-10-17T10:50:35Z20202020-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.16/2810engAltassan R, Radenkovic S, Edmondson AC, et al. International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management. J Inherit Metab Dis. 2021;44(1):148-163. doi:10.1002/jimd.122860141-895510.1002/jimd.12286info: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:RCAAP2023-10-20T11:02:37Zoai:repositorio.chporto.pt:10400.16/2810Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:38:59.118944Repositório 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 International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management
title International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management
spellingShingle International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management
Altassan, Ruqaiah
d-galactose
PGM1-CDG
congenital disorder of glycosylation
management guidelines
phosphoglucomutase 1 deficiency
title_short International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management
title_full International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management
title_fullStr International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management
title_full_unstemmed International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management
title_sort International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management
author Altassan, Ruqaiah
author_facet Altassan, Ruqaiah
Radenkovic, Silvia
Edmondson, Andrew C.
Barone, Rita
Brasil, Sandra
Cechova, Anna
Coman, David
Donoghue, Sarah
Falkenstein, Kristina
Ferreira, Vanessa
Ferreira, Carlos
Fiumara, Agata
Francisco, Rita
Freeze, Hudson
Grunewald, Stephanie
Honzik, Tomas
Jaeken, Jaak
Krasnewich, Donna
Lam, Christina
Lee, Joy
Lefeber, Dirk
Marques‐da‐Silva, Dorinda
Pascoal, Carlota
Quelhas, D
Raymond, Kimiyo M.
Rymen, Daisy
Seroczynska, Malgorzata
Serrano, Mercedes
Sykut‐Cegielska, Jolanta
Thiel, Christian
Tort, Frederic
Vals, Mari‐Anne
Videira, Paula
Voermans, Nicol
Witters, Peter
Morava, Eva
author_role author
author2 Radenkovic, Silvia
Edmondson, Andrew C.
Barone, Rita
Brasil, Sandra
Cechova, Anna
Coman, David
Donoghue, Sarah
Falkenstein, Kristina
Ferreira, Vanessa
Ferreira, Carlos
Fiumara, Agata
Francisco, Rita
Freeze, Hudson
Grunewald, Stephanie
Honzik, Tomas
Jaeken, Jaak
Krasnewich, Donna
Lam, Christina
Lee, Joy
Lefeber, Dirk
Marques‐da‐Silva, Dorinda
Pascoal, Carlota
Quelhas, D
Raymond, Kimiyo M.
Rymen, Daisy
Seroczynska, Malgorzata
Serrano, Mercedes
Sykut‐Cegielska, Jolanta
Thiel, Christian
Tort, Frederic
Vals, Mari‐Anne
Videira, Paula
Voermans, Nicol
Witters, Peter
Morava, Eva
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório Científico do Centro Hospitalar Universitário de Santo António
dc.contributor.author.fl_str_mv Altassan, Ruqaiah
Radenkovic, Silvia
Edmondson, Andrew C.
Barone, Rita
Brasil, Sandra
Cechova, Anna
Coman, David
Donoghue, Sarah
Falkenstein, Kristina
Ferreira, Vanessa
Ferreira, Carlos
Fiumara, Agata
Francisco, Rita
Freeze, Hudson
Grunewald, Stephanie
Honzik, Tomas
Jaeken, Jaak
Krasnewich, Donna
Lam, Christina
Lee, Joy
Lefeber, Dirk
Marques‐da‐Silva, Dorinda
Pascoal, Carlota
Quelhas, D
Raymond, Kimiyo M.
Rymen, Daisy
Seroczynska, Malgorzata
Serrano, Mercedes
Sykut‐Cegielska, Jolanta
Thiel, Christian
Tort, Frederic
Vals, Mari‐Anne
Videira, Paula
Voermans, Nicol
Witters, Peter
Morava, Eva
dc.subject.por.fl_str_mv d-galactose
PGM1-CDG
congenital disorder of glycosylation
management guidelines
phosphoglucomutase 1 deficiency
topic d-galactose
PGM1-CDG
congenital disorder of glycosylation
management guidelines
phosphoglucomutase 1 deficiency
description Phosphoglucomutase 1 (PGM1) deficiency is a rare genetic disorder that affects glycogen metabolism, glycolysis, and protein glycosylation. Previously known as GSD XIV, it was recently reclassified as a congenital disorder of glycosylation, PGM1-CDG. PGM1-CDG usually manifests as a multisystem disease. Most patients present as infants with cleft palate, liver function abnormalities and hypoglycemia, but some patients present in adulthood with isolated muscle involvement. Some patients develop life-threatening cardiomyopathy. Unlike most other CDG, PGM1-CDG has an effective treatment option, d-galactose, which has been shown to improve many of the patients' symptoms. Therefore, early diagnosis and initiation of treatment for PGM1-CDG patients are crucial decisions. In this article, our group of international experts suggests diagnostic, follow-up, and management guidelines for PGM1-CDG. These guidelines are based on the best available evidence-based data and experts' opinions aiming to provide a practical resource for health care providers to facilitate successful diagnosis and optimal management of PGM1-CDG patients.
publishDate 2020
dc.date.none.fl_str_mv 2020
2020-01-01T00:00:00Z
2023-10-17T10:50:35Z
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/10400.16/2810
url http://hdl.handle.net/10400.16/2810
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Altassan R, Radenkovic S, Edmondson AC, et al. International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management. J Inherit Metab Dis. 2021;44(1):148-163. doi:10.1002/jimd.12286
0141-8955
10.1002/jimd.12286
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.publisher.none.fl_str_mv Wiley
publisher.none.fl_str_mv Wiley
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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