Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue Journal of Inherited Metabolic Disease Année : 2020

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

Anna Čechová
Ruqaiah Altassan
  • Fonction : Auteur
Klaus Mohnike
  • Fonction : Auteur
Łukasz Pawliński
  • Fonction : Auteur
Silvia Radenkovic
  • Fonction : Auteur
Luis Aldamiz-Echevarria
  • Fonction : Auteur
Maria Luz Couce
  • Fonction : Auteur

Résumé

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.

Domaines

Hématologie

Dates et versions

hal-04457411 , version 1 (14-02-2024)

Identifiants

Citer

Anna Čechová, Ruqaiah Altassan, Delphine Borgel, Arnaud Bruneel, Joana Correia, et al.. Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation. Journal of Inherited Metabolic Disease, 2020, 43 (4), pp.671-693. ⟨10.1002/jimd.12241⟩. ⟨hal-04457411⟩
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