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.
|Translated title of the contribution||An infant with failure to thrive and developmental delay|
|Number of pages||5|
|Journal||Nederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde|
|Publication status||Published - Nov 2003|