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GTR Home > Conditions/Phenotypes > MPI-congenital disorder of glycosylation

MPI-congenital disorder of glycosylation

Synonyms
CDG 1B; CDG Ib; CDG gastrointestinal type; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; Carbohydrate-deficient glycoprotein syndrome type 1B; Congenital disorder of glycosylation type 1B; MANNOSEPHOSPHATE ISOMERASE DEFICIENCY; MPI DEFICIENCY; MPI-CDG; MPI-CDG (CDG-Ib); PROTEIN-LOSING ENTEROPATHY-HEPATIC FIBROSIS SYNDROME; SLSJ syndrome; Saguenay Lac Saint Jean syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. Type I CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein. These disorders can be identified by a characteristic abnormal isoelectric focusing profile of plasma transferrin (Leroy, 2006). For a discussion of the classification of CDGs, see CDG1A (212065). CDG Ib is clinically distinct from most other CDGs by the lack of significant central nervous system involvement. The predominant symptoms are chronic diarrhea with failure to thrive and protein-losing enteropathy with coagulopathy. Some patients develop hepatic fibrosis. CDG Ib is also different from other CDGs in that it can be treated effectively with oral mannose supplementation, but can be fatal if untreated (Marquardt and Denecke, 2003). Thus, CDG Ib should be considered in the differential diagnosis of patients with unexplained hypoglycemia, chronic diarrhea, liver disease, or coagulopathy in order to allow early diagnosis and effective therapy (Vuillaumier-Barrot et al., 2002) Freeze and Aebi (1999) reviewed CDG Ib and CDG Ic (603147). Marques-da-Silva et al. (2017) systematically reviewed the literature concerning liver involvement in CDG. [from OMIM]

Available tests

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Clinical tests (60 available)

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  • Also known as: CDG1B, PMI, PMI1, MPI
    Summary: mannose phosphate isomerase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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