Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose
Hendriksz, C J × McClean, P Henderson, M J Keir, D G Worthington, V C Imtiaz, F Schollen, E Matthijs, Gert Winchester, B G #
British Medical Association
Archives of Disease in Childhood vol:85 issue:4 pages:339-40
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.