Imerslund-Grasbeck syndrome

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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:

• Anemia
• Glossitis
• Cheilosis
• Tabes dorsalis
• Peripheral neuropathy
• Pancytopenia
• Methylmalonyl CoA-emia
• Hypersegmented neutrophils and large RBCs
• Increased MCV (Mean Corpuscular Volume), decreased Hgb/Hct (indicating anemia), and decreased value of vitamin B₁₂
• Proteinuria
• Reversal of all symptoms except neurological symptoms, by IV injection of vitamin B₁₂.

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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