MPI-CDG (CDG-Ib)
Other Names: CDG 1B; CDG1B; Carbohydrate-deficient glycoprotein syndrome type 1B; MPI deficiency; Protein-losing enteropathy-hepatic fibrosis syndrome; Saguenay Lac Saint Jean syndrome; SLSJ syndrome; Mannosephosphate isomerase deficiency; CDG gastrointestinal type; MPI-CDG (CDG-Ib); CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib
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).
NIH genetic and rare disease info[edit source]
MPI-CDG (CDG-Ib) is a rare disease.
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