Type I transferrin isoform profile
http://purl.obolibrary.org/obo/HP_0003642
Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. [ PMID:22516080 PMID:15105360 HPO:probinson ]
Term info
- UMLS:C1837899
There are several methods in use with which this feature can be diagnosed. Using HPLC analysis an increased asialo- and disialotransferrin and reduced tetrasialotransferrin are observed. Using immunoaffinity column analysis, the mono-oligosaccharide/di-oligosaccharide transferrin ratio, and/or the a-oligosaccharide/di-oligosaccharide transferrin ratio are abnormal.
Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II.
Type 1 transferrin isoform profile, Abnormal isoelectric focusing of serum transferrin, type I pattern, Isoelectric focusing of serum transferrin consistent with CDG type I
HP:0003642