Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose.
case_report · Level V
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- Record sourced from PubMed, PMID 11567948.
- Also identified by PMC identifier 1718944.
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Abstract
An Asian girl presented with failure to thrive, congenital hepatic fibrosis, protein losing enteropathy, and hypoglycaemia. Phosphomannose isomerase activity in skin fibroblasts was reduced. She is homozygous for a mutation, D131N, in the phosphomannose isomerase gene (PM1), consistent with the diagnosis of carbohydrate deficient glycoprotein syndrome type 1b. She responded to oral mannose treatment.
Medical subject headings
- Congenital Disorders of Glycosylation
- Mannose
- Mannose-6-Phosphate Isomerase