Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome
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.
Also known as familial megaloblastic anaemia, familial megaloblastic anemia, Imerslund-Grasbeck syndrome, juvenile megaloblastic Anaemia, juvenile megaloblastic Anemia, selective cobalamin malabsorption with proteinuria — per MONDO