Defective MPI causes MPI-CDG

Stable Identifier
Homo sapiens
Defective MPI causes CDG-1b
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Mannose 6-phosphate isomerase (MPI) normally isomerises fructose 6-phosphate (Fru6P) to mannose 6-phosphate (Man6P) in the cytosol. Man6P is a precursor in the synthesis of GDP-mannose and dolichol-phosphate-mannose, required for mannosyl transfer reactions in the N-glycosylation of proteins. Defects in MPI cause congenital disorder of glycosylation 1b (MPI-CDG, previously known as CDG1b,; MIM:602579), a multisystem disorder characterised by under-glycosylated serum glycoproteins (Schollen et al. 2000). Unlike PMM2-CDG (CDG1a), there is no neurological involvement with MPI-CDG. Instead, patients present predominantly with diarrhoea, failure to thrive and protein-losing enteropathy (Pelletier et al. 1986). MPI-CDG is one of two CDGs that can be treated with oral mannose supplementation, but can be fatal if left untreated (Marquardt & Denecke 2003).
Literature References
PubMed ID Title Journal Year
12756558 Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies

Denecke, J, Marquardt, T

Eur. J. Pediatr. 2003
3080572 Secretory diarrhea with protein-losing enteropathy, enterocolitis cystica superficialis, intestinal lymphangiectasia, and congenital hepatic fibrosis: a new syndrome

Brochu, P, Pelletier, VA, Morin, CL, Galéano, N, Roy, CC, Weber, AM

J. Pediatr. 1986
10980531 Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)

Freeze, H, Huijmans, JG, Schollen, E, Patterson, M, Pronicka, E, Babovic-Vuksanovic, D, Van Diggelen, OP, Matthijs, G, Adamowicz, M, Dorland, L, Marquardt, T, Winchester, B, Imtiaz, F, de Koning, TJ

Hum Mutat 2000
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