Imerslund-Grasbeck syndrome

MONDO:0009853

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: Imerslund-Grasbeck syndrome, Imerslund-Gräsbeck syndrome, familial megaloblastic anaemia, familial megaloblastic anemia, juvenile megaloblastic Anaemia, juvenile megaloblastic Anemia, selective cobalamin malabsorption with proteinuria, Gräsbeck-Imerslund disease

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