Autor(es):
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
Data: 2020
Identificador Persistente: http://hdl.handle.net/10400.16/2810
Origem: Repositório Científico da Unidade Local de Saúde de Santo António (ULSSA)
Assunto(s): d-galactose; PGM1-CDG; congenital disorder of glycosylation; management guidelines; phosphoglucomutase 1 deficiency
Descrição
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.
