International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up

Ruqaiah Altassan, Romain Péanne, Jaak Jaeken, Rita Barone, Muad Bidet, Delphine Borgel, Sandra Brasil, David Cassiman, Anna Cechova, David Coman, Javier Corral, Joana Correia, María Eugenia de la Morena-Barrio, Pascale de Lonlay, Vanessa Dos Reis, Carlos R. Ferreira, Agata Fiumara, Rita Francisco, Hudson Freeze, Simone FunkeThatjana Gardeitchik, Matthijs Gert, Muriel Girad, Marisa Giros, Stephanie Grünewald, Trinidad Hernández-Caselles, Tomas Honzik, Marlen Hutter, Donna Krasnewich, Christina Lam, Joy Lee, Dirk Lefeber, Dorinda Marques-da-Silva, Antonio F. Martinez, Hossein Moravej, Katrin Õunap, Carlota Pascoal, Tiffany Pascreau, Marc C Patterson, Dulce Quelhas, Kimiyo Raymond, Peymaneh Sarkhail, Manuel Schiff, Małgorzata Seroczyńska, Mercedes Serrano, Nathalie Seta, Jolanta Sykut-Cegielska, Christian Thiel, Federic Tort, Mari Anne Vals, Paula Videira, Peter Witters, Renate Zeevaert, Eva Morava

Research output: Contribution to journalReview article

10 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)5-28
Number of pages24
JournalJournal of inherited metabolic disease
Volume42
Issue number1
DOIs
StatePublished - Jan 2019

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Altassan, R., Péanne, R., Jaeken, J., Barone, R., Bidet, M., Borgel, D., Brasil, S., Cassiman, D., Cechova, A., Coman, D., Corral, J., Correia, J., de la Morena-Barrio, M. E., de Lonlay, P., Dos Reis, V., Ferreira, C. R., Fiumara, A., Francisco, R., Freeze, H., ... Morava, E. (2019). International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up. Journal of inherited metabolic disease, 42(1), 5-28. https://doi.org/10.1002/jimd.12024