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 - 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 - 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.)
PY - 2021/1/1
Y1 - 2021/1/1
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 - http://www.scopus.com/inward/record.url?scp=85090962557&partnerID=8YFLogxK
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 -