Clinical and biochemical features in a Congolese infant with congenital disorder of glycosylation (CDG)-IIx

N C Nsibu; J Jaeken; H Carchon; M Mampunza; L Sturiale; D Garozzo; M N L Mashako; M P Tshibassu

doi:10.1016/j.ejpn.2007.07.012

Clinical and biochemical features in a Congolese infant with congenital disorder of glycosylation (CDG)-IIx

Eur J Paediatr Neurol. 2008 May;12(3):257-61. doi: 10.1016/j.ejpn.2007.07.012. Epub 2007 Sep 19.

Authors

N C Nsibu¹, J Jaeken, H Carchon, M Mampunza, L Sturiale, D Garozzo, M N L Mashako, M P Tshibassu

Affiliation

¹ Department of Pediatrics, University of Kinshasa, Democratic Republic of the Congo.

PMID: 17884642
DOI: 10.1016/j.ejpn.2007.07.012

Abstract

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.

Publication types

Case Reports

MeSH terms

Apolipoprotein C-III / blood
Carbohydrate Metabolism, Inborn Errors / blood
Carbohydrate Metabolism, Inborn Errors / physiopathology*
Democratic Republic of the Congo
Female
Glycosylation
Humans
Infant
Isoelectric Focusing
Polysaccharides / metabolism*
Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
Transferrin / analysis*

Substances

Apolipoprotein C-III
Polysaccharides
Transferrin