Pediatricians have long recognized lysosomal storage disorders that result from defects in
the degradation of complex glycoconjugates. These include the mucopolysaccharidoses
(eg, Hurler and Hunter syndromes) and the glycolipidoses (eg, Gaucher and Tay-Sach
diseases). In contrast, carbohydrate-deficient glycoprotein syndrome (CDGS) represents a
relatively new class of clinical entities resulting from abnormal synthesis of N-linked
oligosaccharides. The clinical manifestations of CDGS are the direct embryologic and …