Carbohydrate-deficient glycoprotein syndrome type V: Deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase
C Körner, R Knauer, U Holzbach… - Proceedings of the …, 1998 - National Acad Sciences
C Körner, R Knauer, U Holzbach, F Hanefeld, L Lehle, K Von Figura
Proceedings of the National Academy of Sciences, 1998•National Acad SciencesDeficiency 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 …
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 …
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.
National Acad Sciences