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

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

doi:10.1002/jimd.12024

Back

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

Journal article

Peer reviewed

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

Ruqaiah Altassan, Romain Peanne, Jaak Jaeken, Rita Barone, Muad Bidet, Delphine Borgel, Sandra Brasil, David Cassiman, Anna Cechova, David Coman, …

Journal of inherited metabolic disease, Vol.42(1), pp.5-28

01/01/2019

DOI: https://doi.org/10.1002/jimd.12024

PMID: 30740725

Abstract

Endocrinology & Metabolism

Genetics & Heredity

Life Sciences & Biomedicine

Medicine, Research & Experimental

Research & Experimental Medicine

Science & Technology

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.

Metrics

1 Record Views

See more details

Details

Title: International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up
Creators - without role: Ruqaiah Altassan - King Faisal Specialist Hospital & Research Centre
Romain Peanne - KU Leuven
Jaak Jaeken - KU Leuven
Rita Barone - University of Catania
Muad Bidet - Institut Necker Enfants Malades
Delphine Borgel - University of Paris-Sud
Sandra Brasil - Universidade Nova de Lisboa
David Cassiman - KU Leuven
Anna Cechova - Charles University
David Coman - Queensland Children’s Hospital
Javier Corral - Universidad de Murcia
Joana Correia - Centro Hospitalar do Porto
Maria Eugenia de la Morena-Barrio - Universidad de Murcia
Pascale de Lonlay - Hôpital Necker-Enfants Malades
Vanessa Dos Reis - Universidade Nova de Lisboa
Carlos R. Ferreira - National Human Genome Research Institute
Agata Fiumara - University of Catania
Rita Francisco - Universidade Nova de Lisboa
Hudson Freeze - Discovery Institute
Simone Funke - University of Pecs
Thatjana Gardeitchik - Radboud University Nijmegen
Matthijs Gert - KU Leuven
Muriel Girad - Délégation Paris 5
Marisa Giros - Centro de Investigación Biomédica en Red
Stephanie Gruenewald - Ormond
Trinidad Hernandez-Caselles - Universidad de Murcia
Tomas Honzik - Charles University
Marlen Hutter - Heidelberg University
Donna Krasnewich - National Human Genome Research Institute
Christina Lam - University of Washington
Joy Lee - Royal Children's Hospital
Dirk Lefeber - Radboud University Nijmegen
Dorinda Marques-de-Silva - Nova Southeastern University
Antonio F. Martinez - College Station Medical Center
Hossein Moravej - Shiraz University of Medical Sciences
Katrin Ounap - Tartu University Hospital
Carlota Pascoal - Universidade Nova de Lisboa
Tiffany Pascreau - Hôpital Robert-Debré
Marc Patterson - Children's Center
Dulce Quelhas - Universidad de Murcia
Kimiyo Raymond - Mayo Clinic
Peymaneh Sarkhail - Sarem Cell Research Center
Manuel Schiff - Hôpital Robert-Debré
Malgorzata Seroczynska - Universidad de Murcia
Mercedes Serrano - Instituto de Salud Carlos III
Nathalie Seta - Délégation Paris 5
Jolanta Sykut-Cegielska - Department of Inborn Errors of Metabolism and Paediatrics, the Institute of Mother and Child, Warsaw, Poland
Christian Thiel - Heidelberg University
Federic Tort - Centro de Investigación Biomédica en Red
Mari-Anne Vals - University of Tartu
Paula Videira - Universidade Nova de Lisboa
Peter Witters - KU Leuven
Renate Zeevaert - Jessa Hospital
Eva Morava - Tulane University
Publication Details: Journal of inherited metabolic disease, Vol.42(1), pp.5-28
Publisher: Wiley
Number of pages: 24
Grant note: R01DK099551 / NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Diabetes & Digestive & Kidney Diseases (NIDDK) Metabolic ERN (MetabERN)
Identifiers: 9913226808331
Academic Unit: King Faisal University; Alfaisal University
Language: English
Resource Type: Journal article