Autor(es):
Altassan, Ruqaiah ; Radenkovic, Silvia ; Edmondson, Andrew C. ; Barone, Rita ; Brasil, Sandra ; Cechova, Anna ; Coman, David ; Donoghue, Sarah ; Falkenstein, Kristina ; Ferreira, Vanessa ; 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, Dulce ; 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: 2021
Identificador Persistente: http://hdl.handle.net/10362/114760
Origem: Repositório Institucional da UNL
Assunto(s): congenital disorder of glycosylation; d-galactose; management guidelines; PGM1-CDG; phosphoglucomutase 1 deficiency; Genetics; Genetics(clinical)
Descrição
P. W. is supported by the Clinical Research Fund, University Hospitals Leuven, Leuven, Belgium. This work is partially funded by the grant titled Frontiers in Congenital Disorders of Glycosylation (1U54NS115198-01) from the National Institute of Neurological Diseases and Stroke (NINDS), the National Center for Advancing Translational Sciences (NCATS), and the Rare Disorders Consortium Research Network (RDCRN) (E. M., K. R., C. F., H. F., C. L., and A. E.)
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.
