Case Reports
doi: 10.1172/JCI2350.
Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy
Affiliations
- PMID: 9525984
- PMCID: PMC508719
- DOI: 10.1172/JCI2350
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Case Reports
Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy
J Clin Invest.
.
Abstract
Phosphomannose isomerase (PMI) deficiency is the cause of a new type of carbohydrate-deficient glycoprotein syndrome (CDGS). The disorder is caused by mutations in the PMI1 gene. The clinical phenotype is characterized by protein-losing enteropathy, while neurological manifestations prevailing in other types of CDGS are absent. Using standard diagnostic procedures, the disorder is indistinguishable from CDGS type Ia (phosphomannomutase deficiency). Daily oral mannose administration is a successful therapy for this new type of CDG syndrome classified as CDGS type Ib.
Comment in
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Diseases of abnormal protein glycosylation: an emerging area.J Clin Invest. 1998 Apr 1;101(7):1293-5. doi: 10.1172/JCI3140. J Clin Invest. 1998. PMID: 9525970 Free PMC article. Review. No abstract available.
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