Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose

Authors
Hendriksz, CJ McClean, P Henderson, MJ Keir, DG Worthington, VC Imtiaz, F Schollen, E Matthijs, G Winchester, BG
Citation
Cj. Hendriksz et al., Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose, ARCH DIS CH, 85(4), 2001, pp. 339-340
Citations number
6
Categorie Soggetti
Pediatrics,"Medical Research General Topics
Journal title
ARCHIVES OF DISEASE IN CHILDHOOD
ISSN journal
00039888 → ACNP
Volume
85
Issue
4
Year of publication
2001
Pages
339 - 340
Database
ISI
SICI code
0003-9888(200110)85:4<339:STOCDG>2.0.ZU;2-Q
Abstract
An Asian girl presented with failure to thrive, congenital hepatic fibrosis , protein losing enteropathy, and hypoglycaemia. Phosphomannose isomerase a ctivity in skin fibroblasts was reduced. She is homozygous for a mutation, D131N, in the phosphomannose isomerase gene (PM1), consistent with the diag nosis of carbohydrate deficient glycoprotein syndrome type 1b. She responde d to oral mannose treatment.