Clinical and biochemical characterization of a patient with congenital disorder of glycosylation (CDG) IIx.
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.
Miura
Yoshiaki
Y
Burnham Institute, Program for Glycobiology and Carbohydrate Chemistry, La Jolla, Calif 92037, USA.
Tay
Stacey K H
SK
Aw
Marion M
MM
Eklund
Erik A
EA
Freeze
Hudson H
HH
D001921:Brain / Q000002:abnormalities; D002851:Chromatography, High Pressure Liquid; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis* / Q000235:genetics; D006023:Glycoproteins / Q000097:blood*; D006801:Humans; D008103:Liver Cirrhosis / Q000000981:diagnostic imaging; D011134:Polysaccharides / Q000097:blood*; D011859:Radiography; D021241:Spectrometry, Mass, Electrospray Ionization; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; D014168:Transferrin / Q000378:metabolism
D006023:Glycoproteins; D011134:Polysaccharides; D014168:Transferrin