Citations 12
International consensus guidelines for phosphoglucomutase 1 deficiency ( PGM1‐CDG ): Diagnosis, follow‐up, and management
Altassan, Ruqaiah , Radenkovic, Silvia , Edmondson, Andrew C. , Barone, Rita , Brasil, Sandra , Čechová, Anna , Coman, David , Donoghue, Sarah , Falkenstein, Kristina , Ferreira, Vanessa dos Reis , Fiumara, Agata , Francisco, Rita , Grünewald, Stephanie , Jaeken, Jaak , Krasnewich, Donna M., Lam, Christina , Lefeber, Dirk J. , Marques‐da‐Silva, Dorinda , Pascoal, Carlota , Quelhas, Dulce , Raymond, Kimiyo , Rymen, Daisy , Seroczyńska, Małgorzata, Serrano, Mercedes , Thiel, Christian , Tort, Frederic , Vals, Mari‐Anne , Videira, Paula A. , Raymond, Kimiyo M, Donoghue, Sarah E , Edmondson, Andrew C , Pascoal, Carlota , Videira, Paula A , Ferreira, Carlos R , Freeze, Hudson H. , Honzík, Tomáš , Lee, Joy Li-Yueh , Sykut‐Cegielska, Jolanta , Voermans, Nicol Cornelia , Witters, Peter , Morava, Éva
Journal of Inherited Metabolic Disease | July 18, 2020 | Volume: 44 | Issue: 1 | Pages: 148-163
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.
Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation
Čechová, Anna , Altassan, Ruqaiah , Borgel, Delphine , Bruneel, Arnaud , Correia, Joana , Girard, M , Harroche, Annie , Pascreau, Tiffany , Pawliński, Łukasz , Radenkovic, Silvia , Vuillaumier‐Barrot, Sandrine , Aldámiz‐Echevarría, Luis , Martins, Esmeralda , Quelhas, Dulce , Lonlay, Pascale de , Kieć‐Wilk, Beata , Mohnike, Klaus L. , Couce, María Luz , Morava, Éva , Witters, Peter , Honzík, Tomáš
Journal of Inherited Metabolic Disease | April 8, 2020 | Volume: 43 | Issue: 4 | Pages: 671-693
Abstract Mannose phosphate isomerase‐congenital disorder of glycosylation (MPI‐CDG) deficiency is a rare subtype of congenital disorders of protein N ‐glycosylation. It is characterised by deficiency of MPI caused by pathogenic variants in MPI gene. The manifestation of MPI‐CDG is different from other CDGs as the patients suffer dominantly from gastrointestinal and hepatic involvement whereas they usually do not present intellectual disability or neurological impairment. It is also one of the few treatable subtypes of CDGs with proven effect of oral mannose. This article covers a complex review of the literature and recommendations for the management of MPI‐CDG with an emphasis on the clinical aspect of the disease. A team of international experts elaborated summaries and recommendations for diagnostics, differential diagnosis, management, and treatment of each system/organ involvement based on evidence‐based data and experts' opinions. Those guidelines also reveal more questions about MPI‐CDG which need to be further studied.