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

Authors :: Nsibu, N.C.
Jaeken, J.
Carchon, H.
Mampunza, M.
Sturiale, L.
Garozzo, D.
Mashako, M.N.L.
Tshibassu, M.P.
Source :: European Journal of Paediatric Neurology; May2008, Vol. 12 Issue 3, p257-261, 5p
Publication Year :: 2008
Abstract: 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. [Copyright &y& Elsevier]

Subjects :: GLYCOSYLATION
PEDIATRIC neurology
PEDIATRICS
NEUROLOGICAL disorders
NEUROLOGY

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