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Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation
Author(s) -
Čechová Anna,
Altassan Ruqaiah,
Borgel Delphine,
Bruneel Arnaud,
Correia Joana,
Girard Muriel,
Harroche Annie,
KiecWilk Beata,
Mohnike Klaus,
Pascreau Tiffany,
Pawliński Łukasz,
Radenkovic Silvia,
VuillaumierBarrot Sandrine,
AldamizEchevarria Luis,
Couce Maria Luz,
Martins Esmeralda G.,
Quelhas Dulce,
Morava Eva,
Lonlay Pascale,
Witters Peter,
Honzík Tomáš
Publication year - 2020
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.12241
Subject(s) - guideline , glycosylation , mannose , intellectual disability , medicine , intensive care medicine , congenital disorder , differential diagnosis , bioinformatics , pediatrics , pathology , genetics , biology , psychiatry , biochemistry , surgery
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.