Imerslund-Gräsbeck syndrome
ORPHA:35858· ICD-10 D51.1
Definition
Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood