| Literature DB >> 30740725 |
Ruqaiah Altassan1,2, Romain Péanne3,4, Jaak Jaeken3, Rita Barone5, Muad Bidet6, Delphine Borgel7, Sandra Brasil8,9, David Cassiman10, Anna Cechova11, David Coman12,13, Javier Corral14, Joana Correia15, María Eugenia de la Morena-Barrio16, Pascale de Lonlay17, Vanessa Dos Reis8, Carlos R Ferreira18,19, Agata Fiumara5, Rita Francisco8,9,20, Hudson Freeze21, Simone Funke22, Thatjana Gardeitchik23, Matthijs Gert4,24, Muriel Girad25,26, Marisa Giros27, Stephanie Grünewald28, Trinidad Hernández-Caselles29, Tomas Honzik11, Marlen Hutter30, Donna Krasnewich18, Christina Lam31,32, Joy Lee33, Dirk Lefeber23, Dorinda Marques-de-Silva9,20, Antonio F Martinez34, Hossein Moravej35, Katrin Õunap36,37, Carlota Pascoal8,9, Tiffany Pascreau38, Marc Patterson39,40,41, Dulce Quelhas14,42, Kimiyo Raymond43, Peymaneh Sarkhail44, Manuel Schiff45, Małgorzata Seroczyńska29, Mercedes Serrano46, Nathalie Seta47, Jolanta Sykut-Cegielska48, Christian Thiel30, Federic Tort27, Mari-Anne Vals49, Paula Videira20, Peter Witters50,51, Renate Zeevaert52, Eva Morava53,54.
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.Entities:
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Year: 2019 PMID： 30740725 DOI： 10.1002/jimd.12024
Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982