Author(s):
Altassan, Ruqaiah ; Péanne, Romain ; Jaeken, Jaak ; Barone, Rita ; Bidet, Muad ; Borgel, Delphine ; Brasil, Sandra ; Cassiman, David ; Cechova, Anna ; Coman, David ; Corral, Javier ; Correia, Joana ; Morena-Barrio, María Eugenia de la ; de Lonlay, Pascale ; Reis, Vanessa dos ; Ferreira, Carlos R. ; Fiumara, Agata ; Francisco, Rita ; Freeze, Hudson ; Funke, Simone ; Gardeitchik, Thatjana ; Gert, Matthijs ; Girad, Muriel ; Giros, Marisa ; Grünewald, Stephanie ; Hernández-Caselles, Trinidad ; Honzik, Tomas ; Hutter, Marlen ; Krasnewich, Donna ; Lam, Christina ; Lee, Joy ; Lefeber, Dirk ; Marques-da-Silva, Dorinda ; Martinez, Antonio F. ; Moravej, Hossein ; Õunap, Katrin ; Pascoal, Carlota ; Pascreau, Tiffany ; Patterson, Marc ; Quelhas, Dulce ; Raymond, Kimiyo ; Sarkhail, Peymaneh ; Schiff, Manuel ; Seroczyńska, Małgorzata ; Serrano, Mercedes ; Seta, Nathalie ; Sykut-Cegielska, Jolanta ; Thiel, Christian ; Tort, Federic ; Vals, Mari Anne ; Videira, Paula ; Witters, Peter ; Zeevaert, Renate ; Morava, Eva
Date: 2019
Origin: Repositório Institucional da UNL
Subject(s): Genetics; Genetics(clinical)
Description
We would like to thank the Metabolic ERN (MetabERN) for their support to our study.
Phosphomannomutase 2 (PMM2-CDG) is the most common congenital disorder of N-glycosylation and is caused by a deficient PMM2 activity. The clinical presentation and the onset of PMM2-CDG vary among affected individuals ranging from a severe antenatal presentation with multisystem involvement to mild adulthood presentation limited to minor neurological involvement. Management of affected patients requires a multidisciplinary approach. In this article, a systematic review of the literature on PMM2-CDG was conducted by a group of international experts in different aspects of CDG. Our managment guidelines were initiated based on the available evidence-based data and experts' opinions. This guideline mainly addresses the clinical evaluation of each system/organ involved in PMM2-CDG, and the recommended management approach. It is the first systematic review of current practices in PMM2-CDG and the first guidelines aiming at establishing a practical approach to the recognition, diagnosis and management of PMM2-CDG patients.
