Clinical and biochemical features in a Congolese infant with congenital disorder of glycosylation (CDG)-IIx.
We describe an infant girl with psychomotor retardation, growth retardation, mild facial dysmorphy, evidence of liver involvement and a type 2 pattern of serum sialotransferrins. Serum transferrin glycan analysis with MALDI-TOF showed an extremely altered N-glycan pattern with a large number of truncated asialoglycans pointing to a severely defective N-glycan processing. The basic defect in this patient with CDG-IIx has not yet been identified.
Nsibu
N C
NC
Department of Pediatrics, University of Kinshasa, Democratic Republic of the Congo.
Jaeken
J
J
Carchon
H
H
Mampunza
M
M
Sturiale
L
L
Garozzo
D
D
Mashako
M N L
MN
Tshibassu
M P
MP
D053305:Apolipoprotein C-III / Q000097:blood; D002239:Carbohydrate Metabolism, Inborn Errors / Q000097:blood / Q000503:physiopathology*; D015023:Democratic Republic of the Congo; D005260:Female; D006031:Glycosylation; D006801:Humans; D007223:Infant; D007525:Isoelectric Focusing; D011134:Polysaccharides / Q000378:metabolism*; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; D014168:Transferrin / Q000032:analysis*
D053305:Apolipoprotein C-III; D011134:Polysaccharides; D014168:Transferrin