Case Reports
doi: 10.1136/adc.85.4.339.
Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose
Affiliations
- PMID: 11567948
- PMCID: PMC1718944
- DOI: 10.1136/adc.85.4.339
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Case Reports
Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose
Arch Dis Child.
2001 Oct.
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.
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