/MPI-congenital disorder of glycosylation

MPI-congenital disorder of glycosylation

Rare Disease

MONDO:0011257

Also Known As

CDG syndrome type IBCDG-IbCDG1BMPI-CDGcarbohydrate deficient glycoprotein syndrome type IBcongenital disorder of glycosylation type 1bcongenital disorder of glycosylation type IBphosphomannose isomerase deficiencyCDG 1BCDG IbCDG gastrointestinal typeCDG, gastrointestinal typeMPI-CDG (CDG-Ib)Mannosephosphate isomerase deficiencyMpi deficiencyProtein-losing enteropathy-hepatic fibrosis syndromeSLSJ syndromeSaguenay Lac Saint Jean syndromeSaguenay-Lac Saint-Jean syndromeSlsj syndromecarbohydrate-deficient glycoprotein syndrome type 1Bcongenital disorder of glycosylation, type IB

Definition

MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).