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 Funke; Thatjana 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 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

doi:10.1002/jimd.12024

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 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 journal › Review article › peer-review

28 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 language	English (US)
Pages (from-to)	5-28
Number of pages	24
Journal	Journal of inherited metabolic disease
Volume	42
Issue number	1
DOIs	https://doi.org/10.1002/jimd.12024
State	Published - 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

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, ME, de Lonlay, P, Dos Reis, V, Ferreira, CR, Fiumara, A, Francisco, R, Freeze, H, Funke, S, Gardeitchik, T, Gert, M, Girad, M, Giros, M, Grünewald, S, Hernández-Caselles, T, Honzik, T, Hutter, M, Krasnewich, D, Lam, C, Lee, J, Lefeber, D, Marques-da-Silva, D, Martinez, AF, Moravej, H, Õunap, K, Pascoal, C, Pascreau, T, Patterson, M, Quelhas, D, Raymond, K, Sarkhail, P, Schiff, M, Seroczyńska, M, Serrano, M, Seta, N, Sykut-Cegielska, J, Thiel, C, Tort, F, Vals, MA, Videira, P, Witters, P, Zeevaert, R & 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, vol. 42, no. 1, pp. 5-28. https://doi.org/10.1002/jimd.12024

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

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.",

author = "Ruqaiah Altassan and Romain P{\'e}anne and Jaak Jaeken and Rita Barone and Muad Bidet and Delphine Borgel and Sandra Brasil and David Cassiman and Anna Cechova and David Coman and Javier Corral and Joana Correia and {de la Morena-Barrio}, {Mar{\'i}a Eugenia} and {de Lonlay}, Pascale and {Dos Reis}, Vanessa and Ferreira, {Carlos R.} and Agata Fiumara and Rita Francisco and Hudson Freeze and Simone Funke and Thatjana Gardeitchik and Matthijs Gert and Muriel Girad and Marisa Giros and Stephanie Gr{\"u}newald and Trinidad Hern{\'a}ndez-Caselles and Tomas Honzik and Marlen Hutter and Donna Krasnewich and Christina Lam and Joy Lee and Dirk Lefeber and Dorinda Marques-da-Silva and Martinez, {Antonio F.} and Hossein Moravej and Katrin {\~O}unap and Carlota Pascoal and Tiffany Pascreau and Marc Patterson and Dulce Quelhas and Kimiyo Raymond and Peymaneh Sarkhail and Manuel Schiff and Ma{\l}gorzata Seroczy{\'n}ska and Mercedes Serrano and Nathalie Seta and Jolanta Sykut-Cegielska and Christian Thiel and Federic Tort and Vals, {Mari Anne} and Paula Videira and Peter Witters and Renate Zeevaert and Eva Morava",

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doi = "10.1002/jimd.12024",

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T2 - Diagnosis, treatment and follow up

AU - Altassan, Ruqaiah

AU - Péanne, Romain

AU - Jaeken, Jaak

AU - Barone, Rita

AU - Bidet, Muad

AU - Borgel, Delphine

AU - Brasil, Sandra

AU - Cassiman, David

AU - Cechova, Anna

AU - Coman, David

AU - Corral, Javier

AU - Correia, Joana

AU - de la Morena-Barrio, María Eugenia

AU - de Lonlay, Pascale

AU - Dos Reis, Vanessa

AU - Ferreira, Carlos R.

AU - Fiumara, Agata

AU - Francisco, Rita

AU - Freeze, Hudson

AU - Funke, Simone

AU - Gardeitchik, Thatjana

AU - Gert, Matthijs

AU - Girad, Muriel

AU - Giros, Marisa

AU - Grünewald, Stephanie

AU - Hernández-Caselles, Trinidad

AU - Honzik, Tomas

AU - Hutter, Marlen

AU - Krasnewich, Donna

AU - Lam, Christina

AU - Lee, Joy

AU - Lefeber, Dirk

AU - Marques-da-Silva, Dorinda

AU - Martinez, Antonio F.

AU - Moravej, Hossein

AU - Õunap, Katrin

AU - Pascoal, Carlota

AU - Pascreau, Tiffany

AU - Patterson, Marc

AU - Quelhas, Dulce

AU - Raymond, Kimiyo

AU - Sarkhail, Peymaneh

AU - Schiff, Manuel

AU - Seroczyńska, Małgorzata

AU - Serrano, Mercedes

AU - Seta, Nathalie

AU - Sykut-Cegielska, Jolanta

AU - Thiel, Christian

AU - Tort, Federic

AU - Vals, Mari Anne

AU - Videira, Paula

AU - Witters, Peter

AU - Zeevaert, Renate

AU - Morava, Eva

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N2 - 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.

AB - 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.

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

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