Transferrin Isoforms serum [ICNApedia]

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====== 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[(:cite:mayo>Mayo Foundation for Medical Education and Research. (n.d.). Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation, Serum. Retrieved February 15, 2020, from https://www.mayocliniclabs.com/test-catalog/Clinical+and+Interpretive/89891)]
  * Transferrin glycosylation patterns may normalize so repeat testing is warranted in patients with significant clinical suspicion[(:cite:mayo)].

===== Resources =====
  * [[https://www.mayocliniclabs.com/test-catalog/Clinical+and+Interpretive/89891|Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation]], Serum (Mayo Clinic labs)

==== References ====
~~REFNOTES~~