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

Hendriksz, CJ;McClean, P;Henderson, MJ;Keir, DG;Winchester, BG;et.al.
(2001) Archives of Disease in Childhood — Vol. 85, n° 4, p. 339-340 (2001)

Files

No attached file found for this publication.

Details

Authors
  • Hendriksz, CJ
    Author
  • McClean, P
    Author
  • Henderson, MJ
    Author
  • Keir, DG
    Author
  • Winchester, BG
    Author
Show more
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.
Affiliations

Citations

  • APA
  • Chicago
  • FWB

Hendriksz, C., McClean, P., Henderson, M., Keir, D., Worthington, V., Imtiaz, F., Schollen, E., Matthijs, G., & Winchester, B. (2001). Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose. Archives of Disease in Childhood, 85(4), 339-340. https://doi.org/10.1136/adc.85.4.339 (Original work published 2001)