A novel homozygous mutation in the mannose phosphate isomerase gene causing congenital disorder of glycation and hyperinsulinemic hypoglycemia in an infant

Abstract

Key Clinical MessageWe report a 4 years girl with congenital disorders of glycosylation (CDG) type Ib due to a novel homozygous mutation in MPI gene. She presented with diazoxide‐responsive hyperinsulinemic hypoglycemia. CDG should be considered in unexplained hypoglycemia particularly in consanguineous families. Diagnosis enables monitoring/prevention of disease comorbidities and early effective treatment.

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

“…One MPI‐CDG patient has been diagnosed by whole exome sequencing on a hyperinsulinaemic hypoglycaemia infant 27 …”

Human Intestinal Macrophages Are Involved in the Pathology of Both Ulcerative Colitis and Crohn Disease

“…The Qlucore Omics Explorer 3.2 software package was used for gene set expression analysis (GSEA) analysis. The M1, M2, and granuloma gene sets used for GSEA studies were obtained from Xue et al 17 (modules 8, 15, and 29) and curated with bibliography. The fibrosis gene set was obtained from IPA software (Qiagen).…”

Long term outcome of MPI‐CDG patients on D‐mannose therapy

“…The first descriptions of MPI‐CDG patients in the 1980s reported a severe protein losing enteropathy responsible for early death 1 . Other symptoms included thrombosis, 1‐3 polycystic kidneys, 4,5 and hyperinsulinism 6 . Intrafamilial heterogeneity 2 as well as incidental diagnosis in adulthood without liver or intestinal involvement have also been described 7,8 …”

“…1 Other symptoms included thrombosis, 1-3 polycystic kidneys, 4,5 and hyperinsulinism. 6 Intrafamilial heterogeneity 2 as well as incidental diagnosis in adulthood without liver or intestinal involvement have also been described. 7,8 MPI-CDG can be fatal without treatment.…”