| Carbohydrate-deficient glycoprotein syndrome: electrophoretic study of multiple serum glycoproteins. | |
| | |
MedLine Citation:
|
PMID: 7762756 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
The serum glycoproteins in three patients with the carbohydrate-deficient glycoprotein (CDG) syndrome were examined using isoelectric focusing in polyacrylamide gels, SDS-PAGE, and a two-dimensional electrophoretic technique. Increases in isoforms with higher isoelectric points (pI's) were observed in all asparagine-N-linked glycoproteins tested. Abnormal components of transferrin, antithrombin III and orosomucoid had smaller molecular weights, about 3000 and 6000 Da, than normal ones. Antithrombin III gave an increased cathodal band. Its pI and molecular weight were the same as those of a physiological variant of antithrombin III (beta fraction), which is known to lack the asparagine-N-linked oligosaccharide chain at asparagine-135. The evidence suggests that a deficiency of asparagine-N-linked oligosaccharide transfer occurs in multiple serum glycoproteins in patients with CDG syndrome. Thus, examination of serum by isoelectric focusing in polyacrylamide gels and SDS-PAGE should be very useful for differentiating the CDG syndrome type I from clinical and biochemical variants. |
| | |
Authors:
|
I Yuasa; K Ohno; K Hashimoto; K Iijima; K Yamashita; K Takeshita |
Related Documents
:
|
21555056 - Clinical outcomes in bilateral sturge-weber syndrome. 8221546 - Differential diagnosis of pedal osseous neoplasms. 21504426 - Dravet syndrome and scn1a gene mutation related-epilepsies: cognitive impairment and it... 11836656 - Rheumatic manifestations of parasitic diseases. 20156076 - Metabolic syndrome does not predict an increased risk of coronary disease in patients w... 12768546 - Ectopic adrenocorticotropin (acth) and corticotropin-releasing hormone (crh) production... |
Publication Detail:
|
Type: Journal Article |
Journal Detail:
|
Title: Brain & development Volume: 17 ISSN: 0387-7604 ISO Abbreviation: Brain Dev. Publication Date: 1995 Jan-Feb |
Date Detail:
|
Created Date: 1995-06-26 Completed Date: 1995-06-26 Revised Date: 2004-11-17 |
Medline Journal Info:
|
Nlm Unique ID: 7909235 Medline TA: Brain Dev Country: NETHERLANDS |
Other Details:
|
Languages: eng Pagination: 13-9 Citation Subset: IM |
Affiliation:
|
Department of Legal Medicine, Tottori University, Yonago, Japan. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Antithrombin III
/
analysis Carbohydrate Metabolism, Inborn Errors / metabolism* Child Electrophoresis, Polyacrylamide Gel Glycoproteins / blood* Humans Oligosaccharides / analysis Orosomucoid / analysis Syndrome Transferrin / analysis |
| Chemical | |
Reg. No./Substance:
|
0/Glycoproteins; 0/Oligosaccharides; 0/Orosomucoid; 11096-37-0/Transferrin; 9000-94-6/Antithrombin III |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Evaluation of the long-term results of the surgical treatment in patient with vaginal aplasia in the...
Next Document: Ferritin immunohistochemical study on pontine nuclei from infants with pontosubicular neuron necrosi...