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
JournalBiochemical and biophysical research communications
Issue number1
Publication statusPublished - 1998

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