Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Imerslund-Grasbeck syndrome
Introduction
Overview
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
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
Genetics
Autosomal recessive pattern of inheritance. The suspected chromosome is 14.
Treatment
Treatment
Injection of IV vitamin B12. Early administration is helpful in reversal of few symptoms.
References
References
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Aditya Govindavarjhulla, M.B.B.S. [2]; Robert Shafton