Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose. Issue 4 (1st October 2001)

• Record Type: Journal Article
• Authors: Hendriksz, C J; McClean, P; Henderson, M J; Keir, D G; Worthington, V C; Imtiaz, F; Schollen, E; Matthijs, G; Winchester, B G
• Is Part Of: Archives of disease in childhood. Volume 85:Issue 4(2001)
• Page Start: 339
• Page End: 340
• Publication Date: 2001-10-01
• Subjects: carbohydrate deficient glycoprotein syndrome -- enteropathy -- hepatic fibrosis -- hyperinsulinism -- hypoglycaemia -- mannose; Children -- Diseases -- Periodicals; Infants -- Diseases -- Periodicals; 618.920005
• DOI: 10.1136/adc.85.4.339
• Languages: English
• ISSNs: 0003-9888

Abstract

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.