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.
Yasugi
E
E
Division of Biochemistry and Nutrition, International Medical Center of Japan, Tokyo.
Nakasuji
M
M
Dohi
T
T
Oshima
M
M
D002239:Carbohydrate Metabolism, Inborn Errors / Q000378:metabolism*; D002478:Cells, Cultured; D004288:Dolichol Phosphates / Q000378:metabolism*; D005347:Fibroblasts / Q000378:metabolism; D006023:Glycoproteins / Q000737:chemistry / Q000378:metabolism*; D006031:Glycosylation; D006801:Humans; D009844:Oligosaccharides / Q000737:chemistry / Q000378:metabolism; D011103:Polyisoprenyl Phosphate Monosaccharides / Q000378:metabolism*; D012867:Skin / Q000378:metabolism; D013577:Syndrome; D017855:Transferases (Other Substituted Phosphate Groups) / Q000378:metabolism
D004288:Dolichol Phosphates; D006023:Glycoproteins; D009844:Oligosaccharides; D011103:Polyisoprenyl Phosphate Monosaccharides; C028306:dolichol monophosphate; C018439:N-acetylglucosaminylpyrophosphoryldolichol; D017855:Transferases (Other Substituted Phosphate Groups); C023222:UDPacetylglucosamine-dolichyl-phosphate acetylglucosamine-1-phosphate transferase