Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase.

Abstract

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.

• Authors: C Körner, R Knauer, U Holzbach, F Hanefeld, L Lehle, K von Figura
• Journal: Proceedings of the National Academy of Sciences of the United States of America (Proc Natl Acad Sci U S A) Vol. 95 Issue 22 Pg. 13200-5 (Oct 27 1998) ISSN: 0027-8424 [Print] United States
• PMID: 9789065 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Oligosaccharides
• Methionine
• Glucosyltransferases
• dolichol phosphate glucose-dolichol diphosphate oligosaccharide glucosyltransferase
• Mannose-6-Phosphate Isomerase
• Phosphotransferases (Phosphomutases)
• phosphomannomutase
• Mannose

Topics

• Cells, Cultured
• Congenital Disorders of Glycosylation (classification, enzymology)
• Fibroblasts
• Glucosyltransferases (deficiency, metabolism)
• Humans
• Mannose (metabolism)
• Mannose-6-Phosphate Isomerase (metabolism)
• Methionine (metabolism)
• Oligosaccharides (chemistry, isolation & purification, metabolism)
• Phosphotransferases (Phosphomutases) (metabolism)
• Skin (enzymology, pathology)