A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency

Research output: Contribution to journalArticle

Abstract

Three siblings suffered from an unusual disorder of cyclic vomiting and congenital hepatic fibrosis. Serum transferrin isoelectric focusing showed increased asialo- and disialotransferrin isoforms as seen in the carbohydrate-deficient glycoprotein (CDG) syndrome type I. Phosphomannomutase, which is deficient in most patients with type I CDG syndrome, was found to be normal in all three patients. Structural analysis of serum transferrin revealed nonglycosylated, hypoglycosylated, and normoglycosylated transferrin molecules. These findings suggested a defect in the early glycosylation pathway. Phosphomannose isomerase was found to be deficient and the defect was present in leucocytes, fibroblasts, and liver tissue. Phosphomannose isomerase deficiency appears to be a novel glycosylation disorder, which is biochemically indistinguishable from CDG syndrome type I. However, the clinical presentation is entirely different.

Details

Authors
  • T. J. De Koning
  • L. Dorland
  • O. P. Van Diggelen
  • A. M.C. Boonman
  • G. J. De Jong
  • W. L. Van Noort
  • Jear De Schryver
  • M. Duran
  • I. E.T. Van Den Berg
  • G. J. Gerwig
  • R. Berger
  • B. T. Poll-The
External organisations
  • Wilhelmina Children’s Hospital
  • Erasmus University Rotterdam
Research areas and keywords

Keywords

  • Carbohydrate-deficient glycoproteins, CDG syndrome, Congenital hepatic fibrosis, Cyclic vomiting, Phosphomannose isomerase deficiency
Original languageEnglish
Pages (from-to)38-42
Number of pages5
JournalBiochemical and Biophysical Research Communications
Volume245
Issue number1
Publication statusPublished - 1998 Apr 7
Publication categoryResearch
Peer-reviewedYes
Externally publishedYes