Format

Send to

Choose Destination
Biochem Biophys Res Commun. 1998 Apr 7;245(1):38-42.

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

Author information

1
Department of Metabolic Diseases, University Children's Hospital "Het Wilhelmina Kinderzieken-huis,", Utrecht, The Netherlands.

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.

PMID:
9535779
DOI:
10.1006/bbrc.1998.8385
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center