Type II transferrin isoform profile

What it means

Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation.

There are several methods in use with which this feature can be diagnosed. Using HPLC analysis increased mono- and trisialotransferrin and reduced tetrasialotransferrin are observed. Using immunoaffinity column analysis, the tri-sialo/di-oligosaccharide transferrin ratio is abnormal.

Rare diseases that can present with this6

The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.

Part of the broader category

Also called: Abnormal isoelectric focusing of serum transferrin, type 2 pattern · Abnormal isoelectric focusing of serum transferrin, type II pattern · Isoelectric focusing of serum transferrin consistent with CDG type II · Type 2 transferrin isoform profile