Premium
International consensus guidelines for phosphoglucomutase 1 deficiency ( PGM1‐CDG ): Diagnosis, follow‐up, and management
Author(s) -
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,
MarquesdaSilva Dorinda,
Pascoal Carlota,
Quelhas Dulce,
Raymond Kimiyo M.,
Rymen Daisy,
Seroczynska Malgorzata,
Serrano Mercedes,
SykutCegielska Jolanta,
Thiel Christian,
Tort Frederic,
Vals MariAnne,
Videira Paula,
Voermans Nicol,
Witters Peter,
Morava Eva
Publication year - 2021
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1002/jimd.12286
Subject(s) - phosphoglucomutase , biology , bioinformatics , medicine , pediatrics , intensive care medicine , biochemistry , enzyme
Abstract 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.