Transferrin Isoforms serum

  • an abnormal pattern of serum transferrin isoforms is found in congenital disorders of glycosylation (also called carbohydrate-deficient glycoprotein or CDG disorders)
  • CDG disorders result from enzyme defects in the post-translational glycosylation of proteins and are associated with developmental delay, dysmorphic features, mental retardation, neurological deficits, and enteropathy.
  • specific enzyme tests are required if the transferrin isoform pattern is suggestive of an abnormal pattern.
  • other conditions such as acute crisis of hereditary fructose intolerance, galactosemia, and acute liver disease may have a congenital disorders of glycosylation (CDG) profile that is indistinguishable from any other true CDG type I cases[1]
  • Transferrin glycosylation patterns may normalize so repeat testing is warranted in patients with significant clinical suspicion[1].

1. a, b Mayo Foundation for Medical Education and Research. (n.d.). Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation, Serum. Retrieved February 15, 2020, from
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