Medicine:MPI-CDG
| MPI-CDG | |
|---|---|
| Other names | CDG-IB |
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| Specialty | Medical genetics |
| Treatment | mannose supplementation |
MPI-CDG is an autosomal recessive congenital disorder of glycosylation caused by biallelic pathogenic variants in MPI. The clinical symptoms in MPI-CDG are caused by deficient activity of the enzyme mannose phosphate isomerase. Clinically, the most common symptoms of MPI-CDG are chronic diarrhea, failure to thrive, protein-losing enteropathy, and coagulopathy.[1] MPI-CDG differs from most other described glycosylation disorders due to its lack of central nervous system involvement, and because it has treatment options besides supportive care. Treatment with oral mannose has been shown to improve most symptoms of the disease.[2] If left untreated, MPI-CDG can be fatal.[1] MPI-CDG was previously known as CDG-IB. The disorder was first described clinically in 1986, and the underlying genetic defect was identified in 1998.[1][3]
References
- ↑ 1.0 1.1 1.2 "# 602579 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B". Johns Hopkins University. https://www.omim.org/entry/602579. Retrieved 2019-04-30.
- ↑ Harms, H. K.; Reiter, K.; Zimmer, K.; Auberger, K.; Bertele-Harms, R. M.; Weidinger, S.; Freeze, H.; Niehues, R. et al. (May 1998). "PHOSPHOMANNOSE-ISOMERASE (PMI) DEFICIENCY, A NEW DEFECT IN THE SYNTHESIS OF GLYCOPROTEINS, MAINLY MANIFESTS AS GASTROINTESTINAL DISEASE, WHICH CAN BE SUCCESSFULLY TREATED BY ORAL MANNOSE." (in en-US). Journal of Pediatric Gastroenterology and Nutrition 26 (5): 547. doi:10.1097/00005176-199805000-00054. ISSN 0277-2116. https://journals.lww.com/jpgn/Fulltext/1998/05000/PHOSPHOMANNOSE_ISOMERASE__PMI__DEFICIENCY,_A_NEW.54.aspx.
- ↑ "MPI-CDG (CDG-Ib) | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". https://rarediseases.info.nih.gov/diseases/9830/disease. Retrieved 1 May 2019.
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