Transferrin isoforms are used in the screening of congenital disorders of glycosylation (CDG). CDG are classified into two main groups. Type I CDG are characterised by defects in the assembly or transfer of the dolichol-linked glycan, while type II CDG involve processing defects of the glycan. Abnormal Transferrin isoforms are a marker for N-linked CDG.
This method does not detect all CDGs, or CDGs in infants < 3 months of age. Some CDGs are not associated with abnormalities of Transferrin isoforms. Recent transfusions invalidate results.
Specialist Biochemistry
TRIS
Chilled (2-8 degrees Celsius), or Frozen (preferred)
Serum transferrin isoforms
Transferrin isoforms
Congenital disorder glycosylation
CDG
Inborn Error Metabolism
IEM
Carbohydrate deficient transferrin
CDT
Carbohydrate deficient glycoprotein
2 weeks
5826