Carbohydrate-deficient glycoprotein syndrome type 1: correction of the glycosylation defect by deprivation of glucose or supplementation of mannose

Glycoconj J. 1998 May;15(5):499-505. doi: 10.1023/a:1006939104442.

Abstract

In the carbohydrate deficient glycoprotein syndrome (CDGS) type 1 glycoproteins with less and shorter N-linked oligosaccharides are synthesized due to a deficiency of phosphomannomutase. Glucose deprivation or mannose addition are shown to partially or fully correct the size of oligosaccharides incorporated into lipid linked oligosaccharides and nascent glycoproteins in skin fibroblasts from CDGS type 1 patients with a phosphomannomutase defect. The corrective effect is ascribed to regulatory mechanisms and/or metabolic pathways that bypass phosphomannomutase.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cells, Cultured
  • Congenital Disorders of Glycosylation / enzymology
  • Congenital Disorders of Glycosylation / metabolism*
  • Fibroblasts / enzymology
  • Fibroblasts / metabolism
  • Glucose / administration & dosage*
  • Glycosylation
  • Humans
  • Mannose / administration & dosage*
  • Phosphotransferases (Phosphomutases) / metabolism
  • Skin / enzymology
  • Skin / metabolism
  • Skin / pathology

Substances

  • Phosphotransferases (Phosphomutases)
  • phosphomannomutase
  • Glucose
  • Mannose