A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency
(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.
(Less)
- author
- publishing date
- 1998-04-07
- 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}}, }