TY - JOUR
T1 - International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG)
T2 - Diagnosis, follow-up, and management
AU - Altassan, Ruqaiah
AU - Radenkovic, Silvia
AU - Edmondson, Andrew C.
AU - Barone, Rita
AU - Brasil, Sandra
AU - Cechova, Anna
AU - Coman, David
AU - Donoghue, Sarah
AU - Falkenstein, Kristina
AU - Ferreira, Vanessa
AU - Ferreira, Carlos
AU - Fiumara, Agata
AU - Francisco, Rita
AU - Freeze, Hudson
AU - Grunewald, Stephanie
AU - Honzik, Tomas
AU - Jaeken, Jaak
AU - Krasnewich, Donna
AU - Lam, Christina
AU - Lee, Joy
AU - Lefeber, Dirk
AU - Marques-da-Silva, Dorinda
AU - Pascoal, Carlota
AU - Quelhas, Dulce
AU - Raymond, Kimiyo M.
AU - Rymen, Daisy
AU - Seroczynska, Malgorzata
AU - Serrano, Mercedes
AU - Sykut-Cegielska, Jolanta
AU - Thiel, Christian
AU - Tort, Frederic
AU - Vals, Mari Anne
AU - Videira, Paula
AU - Voermans, Nicol
AU - Witters, Peter
AU - Morava, Eva
N1 - Publisher Copyright:
© 2020 SSIEM
PY - 2021/1
Y1 - 2021/1
N2 - 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.
AB - 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.
KW - congenital disorder of glycosylation
KW - d-galactose
KW - management guidelines
KW - PGM1-CDG
KW - phosphoglucomutase 1 deficiency
UR - https://www.scopus.com/pages/publications/85090962557
U2 - 10.1002/jimd.12286
DO - 10.1002/jimd.12286
M3 - Review article
C2 - 32681750
AN - SCOPUS:85090962557
SN - 0141-8955
VL - 44
SP - 148
EP - 163
JO - Journal of Inherited Metabolic Disease
JF - Journal of Inherited Metabolic Disease
IS - 1
ER -