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Article

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

8 Apr 2020

Abstract excerpt

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...

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PMID: 32266963
DOI: 10.1002/jimd.12241

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