An abnormal pattern of serum transferrin isoforms is found in congenital disorders of glycosylation (also called carbohydrate-deficient glycoprotein or CDG disorders).
These rare conditions are the result of enzyme defects in the post-translational glycosylation of proteins. Most are associated with developmental delay, and they may present with dysmorphic features, mental retardation, neurological deficits, and enteropathy.
Specific enzyme tests are required if the transferrin isoform pattern is suggestive of an abnormal pattern. If indicated, these follow-up tests can be performed at WCH in Adelaide.
See beta-2 transferrin for detecting leakage of CSF in nasal or ear secretions.
For any further information contact the chemical pathologist via email chemicalpathologist@adhb.govt.nz or via Lablink (Auckland City Hospital) EXT 22000 or 09 3078995.
Dr Cam Kyle (Clinical Head): CampbellK@adhb.govt.nz ext 22052
Dr Weldon Chiu: WeldonC@adhb.govt.nz ext. 23427
Dr Samarina Musaad: SamarinaM@adhb.govt.nz ext. 22402
Dr Campbell Heron: CHeron@adhb.govt.nz ext. 23427
Dr Sakunthala Jayasinghe: sakunthala@adhb.govt.nz ext. 23427
Dr Owen Yi (Registrar): wenyiyi@adhb.govt.nz ext. 22045