@article{6f5ac7677b6540f991423019681ee071,
title = "Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation",
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.",
keywords = "AT deficiency, MPI-CDG, guidelines, hepatic fibrosis, hyperinsulinaemic hypoglycaemia, mannose phosphate isomerase, protein-losing enteropathy",
author = "Anna {\v C}echov{\'a} and Ruqaiah Altassan and Delphine Borgel and Arnaud Bruneel and Joana Correia and Muriel Girard and Annie Harroche and Beata Kiec-Wilk and Klaus Mohnike and Tiffany Pascreau and {\L}ukasz Pawli{\'n}ski and Silvia Radenkovic and Sandrine Vuillaumier-Barrot and Luis Aldamiz-Echevarria and Couce, {Maria Luz} and Martins, {Esmeralda G.} and Dulce Quelhas and Eva Morava and {de Lonlay}, Pascale and Peter Witters and Tom{\'a}{\v s} Honz{\'i}k",
note = "Funding Information: Clinical Research Foundation of University Hospitals Leuven; National Institutes of Health, Grant/Award Number: 1 U54 NS115198‐01 PI; European Union's Horizon 2020 Research and Innovation Program, Grant/Award Number: 643578; Ministry of Education Youth and Sports of Czech Republic, Grant/Award Number: 8F19002; Progress Q26/LF1 Programs of the Charles University; UNCE 204064; General University Hospital in Prague, Grant/Award Number: RVO‐VFN 64165; Ministry of Health of the Czech Republic, Grant/Award Number: MZ CR AZV 16‐31932A; European Reference Network for Hereditary Metabolic Diseases, Grant/Award Number: 739543 Funding information Funding Information: Several authors of this publication are members of the European Reference Network for Hereditary Metabolic Diseases (MetabERN) Project ID No 739543. A. {\v C}. and T. H. were supported by the Ministry of Health of the Czech Republic (MZ CR AZV 16‐31932A), by General University Hospital in Prague, Czech Republic (RVO‐VFN 64165), by UNCE 204064, and Progress Q26/LF1 Programs of the Charles University. EUROGLYCAN‐omics was supported by Ministry of Education Youth and Sports of Czech Republic No. 8F19002, under the frame of E‐Rare‐3, the ERA‐Net for Research on Rare Diseases. A. B. was supported by the European Union's Horizon 2020 Research and Innovation Program under the ERA‐NET co‐fund action No 643578. E. M. was supported by National Institutes of Health (1 U54 NS115198‐01 PI). P. W. was supported by the Clinical Research Foundation of University Hospitals Leuven, Leuven, Belgium. Publisher Copyright: {\textcopyright} 2020 SSIEM",
year = "2020",
month = jul,
day = "1",
doi = "10.1002/jimd.12241",
language = "English (US)",
volume = "43",
pages = "671--693",
journal = "Journal of Inherited Metabolic Disease",
issn = "0141-8955",
publisher = "Springer Netherlands",
number = "4",
}