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

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.