Premium
International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up
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,
de la MorenaBarrio María Eugenia,
de Lonlay Pascale,
Dos Reis Vanessa,
Ferreira Carlos R,
Fiumara Agata,
Francisco Rita,
Freeze Hudson,
Funke Simone,
Gardeitchik Thatjana,
Gert Matthijs,
Girad Muriel,
Giros Marisa,
Grünewald Stephanie,
HernándezCaselles Trinidad,
Honzik Tomas,
Hutter Marlen,
Krasnewich Donna,
Lam Christina,
Lee Joy,
Lefeber Dirk,
MarquesdaSilva Dorinda,
MartinezMonseny 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,
SykutCegielska Jolanta,
Thiel Christian,
Tort Federic,
Vals MariAnne,
Videira Paula,
Witters Peter,
Zeevaert Renate,
Morava Eva
Publication year - 2019
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.12024
Subject(s) - guideline , presentation (obstetrics) , medicine , intensive care medicine , pediatrics , multidisciplinary approach , clinical practice , pathology , surgery , physical therapy , social science , sociology
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.