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 diagnos

SUBMITTER: Cechova A 

PROVIDER: S-EPMC7574589 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature