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

De Koning, T. J. LU ; Dorland, L. ; Van Diggelen, O. P. ; Boonman, A. M.C. ; De Jong, G. J. ; Van Noort, W. L. ; De Schryver, Jear ; Duran, M. ; Van Den Berg, I. E.T. and Gerwig, G. J. , et al. (1998) In Biochemical and Biophysical Research Communications 245(1). p.38-42
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... (More)

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.

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publishing date
type
Contribution to journal
publication status
published
keywords
Carbohydrate-deficient glycoproteins, CDG syndrome, Congenital hepatic fibrosis, Cyclic vomiting, Phosphomannose isomerase deficiency
in
Biochemical and Biophysical Research Communications
volume
245
issue
1
pages
5 pages
publisher
Elsevier
external identifiers
  • pmid:9535779
  • scopus:0032492583
ISSN
0006-291X
DOI
10.1006/bbrc.1998.8385
language
English
LU publication?
no
id
b1dc8f67-706f-44a9-8b18-661ba6240b76
date added to LUP
2020-03-03 19:20:33
date last changed
2024-05-01 07:35:46
@article{b1dc8f67-706f-44a9-8b18-661ba6240b76,
  abstract     = {{<p>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.</p>}},
  author       = {{De Koning, T. J. and Dorland, L. and Van Diggelen, O. P. and Boonman, A. M.C. and De Jong, G. J. and Van Noort, W. L. and De Schryver, Jear and Duran, M. and Van Den Berg, I. E.T. and Gerwig, G. J. and Berger, R. and Poll-The, B. T.}},
  issn         = {{0006-291X}},
  keywords     = {{Carbohydrate-deficient glycoproteins; CDG syndrome; Congenital hepatic fibrosis; Cyclic vomiting; Phosphomannose isomerase deficiency}},
  language     = {{eng}},
  month        = {{04}},
  number       = {{1}},
  pages        = {{38--42}},
  publisher    = {{Elsevier}},
  series       = {{Biochemical and Biophysical Research Communications}},
  title        = {{A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency}},
  url          = {{http://dx.doi.org/10.1006/bbrc.1998.8385}},
  doi          = {{10.1006/bbrc.1998.8385}},
  volume       = {{245}},
  year         = {{1998}},
}