Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation

Anna Čechová; Ruqaiah Altassan; Delphine Borgel; Arnaud Bruneel; Joana Correia; Muriel Girard; Annie Harroche; Beata Kiec-Wilk; Klaus Mohnike; Tiffany Pascreau; Łukasz Pawliński; Silvia Radenkovic; Sandrine Vuillaumier-Barrot; Luis Aldamiz-Echevarria; Maria Luz Couce; Esmeralda G. Martins; Dulce Quelhas; Eva Morava; Pascale de Lonlay; Peter Witters; Tomáš Honzík

doi:10.1002/jimd.12241

Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation

Anna Čechová, Ruqaiah Altassan, Delphine Borgel, Arnaud Bruneel, Joana Correia, Muriel Girard, Annie Harroche, Beata Kiec-Wilk, Klaus Mohnike, Tiffany Pascreau, Łukasz Pawliński, Silvia Radenkovic, Sandrine Vuillaumier-Barrot, Luis Aldamiz-Echevarria, Maria Luz Couce, Esmeralda G. Martins, Dulce Quelhas, Eva Morava, Pascale de Lonlay, Peter WittersTomáš Honzík

Medical Genetics

Research output: Contribution to journal › Review article › peer-review

9 Scopus citations

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.

Original language	English (US)
Pages (from-to)	671-693
Number of pages	23
Journal	Journal of inherited metabolic disease
Volume	43
Issue number	4
DOIs	https://doi.org/10.1002/jimd.12241
State	Published - Jul 1 2020

Keywords

AT deficiency
MPI-CDG
guidelines
hepatic fibrosis
hyperinsulinaemic hypoglycaemia
mannose phosphate isomerase
protein-losing enteropathy

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/jimd.12241

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Čechová, A., Altassan, R., Borgel, D., Bruneel, A., Correia, J., Girard, M., Harroche, A., Kiec-Wilk, B., Mohnike, K., Pascreau, T., Pawliński, Ł., Radenkovic, S., Vuillaumier-Barrot, S., Aldamiz-Echevarria, L., Couce, M. L., Martins, E. G., Quelhas, D., Morava, E., de Lonlay, P., ... Honzík, T. (2020). Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation. Journal of inherited metabolic disease, 43(4), 671-693. https://doi.org/10.1002/jimd.12241

Čechová, A, Altassan, R, Borgel, D, Bruneel, A, Correia, J, Girard, M, Harroche, A, Kiec-Wilk, B, Mohnike, K, Pascreau, T, Pawliński, Ł, Radenkovic, S, Vuillaumier-Barrot, S, Aldamiz-Echevarria, L, Couce, ML, Martins, EG, Quelhas, D, Morava, E, de Lonlay, P, Witters, P & Honzík, T 2020, 'Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation', Journal of inherited metabolic disease, vol. 43, no. 4, pp. 671-693. https://doi.org/10.1002/jimd.12241

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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.",

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AU - Čechová, Anna

AU - Altassan, Ruqaiah

AU - Borgel, Delphine

AU - Bruneel, Arnaud

AU - Correia, Joana

AU - Girard, Muriel

AU - Harroche, Annie

AU - Kiec-Wilk, Beata

AU - Mohnike, Klaus

AU - Pascreau, Tiffany

AU - Pawliński, Łukasz

AU - Radenkovic, Silvia

AU - Vuillaumier-Barrot, Sandrine

AU - Aldamiz-Echevarria, Luis

AU - Couce, Maria Luz

AU - Martins, Esmeralda G.

AU - Quelhas, Dulce

AU - Morava, Eva

AU - de Lonlay, Pascale

AU - Witters, Peter

AU - Honzík, Tomáš

PY - 2020/7/1

Y1 - 2020/7/1

N2 - 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.

AB - 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.

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KW - hepatic fibrosis

KW - hyperinsulinaemic hypoglycaemia

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Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation

Abstract

Keywords

ASJC Scopus subject areas

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