Correia, Joana
https://orcid.org/0000-0002-0245-6840
Mayo Clinic
Centro de Referência Doenças Hereditárias do Metabolismo ‐ Centro Hospitalar Universitário do Porto (CHUP) Porto Portugal
Citations 2
Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation
Čechová, Anna , Altassan, Ruqaiah , Borgel, Delphine , Bruneel, Arnaud , Correia, Joana , Girard, M , Harroche, Annie , Pascreau, Tiffany , Pawliński, Łukasz , Radenkovic, Silvia , Vuillaumier‐Barrot, Sandrine , Aldámiz‐Echevarría, Luis , Martins, Esmeralda , Quelhas, Dulce , Lonlay, Pascale de , Kieć‐Wilk, Beata , Mohnike, Klaus L. , Couce, María Luz , Morava, Éva , Witters, Peter , Honzík, Tomáš
Journal of Inherited Metabolic Disease | April 8, 2020 | Volume: 43 | Issue: 4 | Pages: 671-693
Abstract Mannose phosphate isomerase‐congenital disorder of glycosylation (MPI‐CDG) deficiency is a rare subtype of congenital disorders of protein N ‐glycosylation. It is characterised by deficiency of MPI caused by pathogenic variants in MPI gene. The manifestation of MPI‐CDG is different from other CDGs as the patients suffer dominantly from gastrointestinal and hepatic involvement whereas they usually do not present intellectual disability or neurological impairment. It is also one of the few treatable subtypes of CDGs with proven effect of oral mannose. This article covers a complex review of the literature and recommendations for the management of MPI‐CDG with an emphasis on the clinical aspect of the disease. A team of international experts elaborated summaries and recommendations for diagnostics, differential diagnosis, management, and treatment of each system/organ involvement based on evidence‐based data and experts' opinions. Those guidelines also reveal more questions about MPI‐CDG which need to be further studied.
International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up
Altassan, Ruqaiah , Péanne, Romain , Jaeken, Jaak , Barone, Rita , Bidet, Muad, Borgel, Delphine , Brasil, Sandra , Cassiman, David , Čechová, Anna , Coman, David , Corral, Javier , Correia, Joana , Lonlay, Pascale de , Reis, Vanessa dos , Fiumara, Agata , Francisco, Rita , Funke, Simone, Gardeitchik, Thatjana , Matthijs, Gert , Girad, Muriel, Grünewald, Stephanie , Hernández‐Caselles, Trinidad , Hutter, Marlen, Krasnewich, Donna M., Lam, Christina , Lefeber, Dirk J. , Marques‐da‐Silva, Dorinda , Martínez‐Monseny, Antonio Federico , Moravej, Hossein , Õunap, Katrin , Pascoal, Carlota , Pascreau, Tiffany , Quelhas, Dulce , Raymond, Kimiyo , Sarkhail, Peymaneh, Schiff, Manuel , Seroczyńska, Małgorzata, Serrano, Mercedes , Séta, Nathalie , Sykut‐Cegielska, Jolanta , Thiel, Christian , Tort, Federic, Vals, Mari‐Anne , Videira, Paula A. , Zeevaert, Renate , Tort, Frederic , Patterson, Marc, Pascoal, Carlota , Videira, Paula A , Õunap, Katrin , Morena‐Barrio, María Eugenia de la , Ferreira, Carlos R , Freeze, Hudson H. , Girós, Marisa , Honzík, Tomáš , Lee, Joy Li-Yueh , Patterson, Marc C. , Witters, Peter , Morava, Éva
Journal of Inherited Metabolic Disease | February 11, 2019 | Volume: 42 | Issue: 1 | Pages: 5-28
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.