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

T J de Koning, L Dorland, O P van Diggelen, A M Boonman, G J de Jong, W L van Noort, J De Schryver, M Duran, I E van den Berg, G J Gerwig, R Berger, B T Poll-The

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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.

Original languageEnglish
Pages (from-to)38-42
Number of pages5
JournalBiochemical and Biophysical Research Communications
Issue number1
Publication statusPublished - 7-Apr-1998
Externally publishedYes


  • Adolescent
  • Child
  • Congenital Disorders of Glycosylation
  • Female
  • Fructose
  • Genetic Diseases, Inborn
  • Glucose
  • Glycosylation
  • Humans
  • Male
  • Mannose
  • Mannose-6-Phosphate Isomerase
  • Phosphotransferases (Phosphomutases)
  • Transferrin
  • Case Reports
  • Journal Article

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