Imerslund-Grasbeck syndrome

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-in-Chief Aditya Govindavarjhulla, M.B.B.S. [2]; Assistant Editor-in-Chief: Robert Shafton


Overview

Imerslund-Grasbeck syndrome or Imerslund-Najman-Grasbeck syndrome or Imerslund-Grasbeck disease (IGS or INGS) is an autosomal recessive, familial form of vitamin B12 deficiency caused by malfunction of the receptor located in the terminal ileum.


Signs and symptoms

Defined as those seen in any macrocytic, megaloblastic anemia:

Genetics

Autosomal recessive pattern of inheritance. The suspected chromosome is 14.

Treatment

Injection of IV vitamin B12. Early administration is helpful in reversal of few symptoms.

References


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