Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase.
Deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase is the cause of an additional type of carbohydrate-deficient glycoprotein syndrome (CDGS type V). Clinically this type resembles the classical type Ia of CDGS caused by the deficiency of phosphomannomutase. As a result of the glucosyltransferase deficiency in CDGS type V nonglucosylated lipid-linked oligosaccharides accumulate. The defect is leaky and glucosylated oligosaccharides are found on nascent glycoproteins. The limited availability of glucosylated lipid-linked oligosaccharides explains the incomplete usage of N-glycosylation sites in glycoproteins. This finding is reflected in the presence of transferrin forms in serum that lack one or both of the two N-linked oligosaccharides and the reduction of mannose incorporation to about one-third of control in glycoproteins of fibroblasts.
Körner
C
C
Georg-August-Universität Göttingen, Abt. Biochemie II, Gosslerstr. 12d, D-37073 Göttingen, Germany. koerner@unibc2.gwdg.de
Knauer
R
R
Holzbach
U
U
Hanefeld
F
F
Lehle
L
L
von Figura
K
K
D002478:Cells, Cultured; D018981:Congenital Disorders of Glycosylation / Q000145:classification / Q000201:enzymology*; D005347:Fibroblasts; D005964:Glucosyltransferases / Q000172:deficiency* / Q000378:metabolism; D006801:Humans; D008358:Mannose / Q000378:metabolism; D008359:Mannose-6-Phosphate Isomerase / Q000378:metabolism; D008715:Methionine / Q000378:metabolism; D009844:Oligosaccharides / Q000737:chemistry / Q000302:isolation & purification / Q000378:metabolism; D017875:Phosphotransferases (Phosphomutases) / Q000378:metabolism; D012867:Skin / Q000201:enzymology* / Q000473:pathology
D009844:Oligosaccharides; D008715:Methionine; D005964:Glucosyltransferases; C054676:dolichol phosphate glucose-dolichol diphosphate oligosaccharide glucosyltransferase; D008359:Mannose-6-Phosphate Isomerase; D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase; D008358:Mannose