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http://hdl.handle.net/10400.16/2810
Título: | International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management |
Autor: | 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 |
Palavras-chave: | d-galactose PGM1-CDG congenital disorder of glycosylation management guidelines phosphoglucomutase 1 deficiency |
Data: | 2020 |
Editora: | Wiley |
Citação: | 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 |
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. |
Peer review: | yes |
URI: | http://hdl.handle.net/10400.16/2810 |
DOI: | 10.1002/jimd.12286 |
ISSN: | 0141-8955 1573-2665 |
Versão do Editor: | https://onlinelibrary.wiley.com/doi/10.1002/jimd.12286 |
Aparece nas colecções: | CGMDJM - Artigos publicados em revistas indexadas na Pubmed/Medline |
Ficheiros deste registo:
Ficheiro | Descrição | Tamanho | Formato | |
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Altassan-2021-International-consensus-guidelines-.pdf | 1,89 MB | Adobe PDF | Ver/Abrir |
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