Clinical and biochemical characterization of a patient with congenital disorder of glycosylation (CDG) IIx.

Research paper by Yoshiaki Y Miura, Stacey K H SK Tay, Marion M MM Aw, Erik A EA Eklund, Hudson H HH Freeze

Indexed on: 17 Dec '05Published on: 17 Dec '05Published in: The Journal of Pediatrics


We describe a case of congenital disorder of glycosylation with chronic diarrhea, progressive liver cirrhosis, and recurrent infections. Transferrin analysis showed only hyposialylation, but analysis of total serum N-glycans indicated loss of additional sugars, arguing that the latter generates a more informative picture to search for the primary defect.