Een zuigeling met 'failure to thrive' en ontwikkelingsachterstand

Congenital disorders of glycosylation (CDG) are a group of inherited metabolic disorders with a defect in protein glycosylation. Since the discovery of the phosphomannomutase-deficiency causing CDG-Ia in 1995, 17 different defects in protein glycosylation have been described, 13 with a defect in the N-glycosylation and 4 with a defect in the O-glycosylation. The different types of CDG are clinically very distinct, which makes it extra difficult to diagnose these patients. We present a case of a typical CDG-Ia patient.