Major defect of carbohydrate-deficient-glycoprotein syndrome is not found in the synthesis of dolichyl phosphate or N-acetylglucosaminyl-pyrophosphoryl-dolichol.

The contents of dolichyl phosphate and UDP-N-acetylglucosamine:dolichyl phosphate N-acetylglucosamine 1-phosphate transferase (GlcNAc-1-P transferase) activity in fibroblasts from patients with carbohydrate-deficient-glycoprotein (CDG) syndrome were analyzed. The amount of dolichyl phosphate and GlcNAc-1-P transferase activity in CDG syndrome fibroblasts were similar to those in normal fibroblasts, suggesting that CDG syndrome may not be due to a deficiency of a biosynthetic enzyme for dolichol-oligosaccharide intermediates, but to a metabolic error in assembly of asparagine-linked oligosaccharide.