Abnormal isoelectric focusing of serum transferrin

What it means

Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. 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. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded.

Human serum transferrin has two N-glycosylation sites, which are normally both fully occupied by disialylated biantennary glycans to generate tetrasialotransferrin.

Rare diseases that can present with this5

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, and Orphanet separately records 1 disease where this sign is specifically absent. 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 transferrin · Abnormal transferrin isoelectric focusing