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Gräsbeck-Imerslund disease

^ http://www.orpha.net/ORDO/Orphanet_35858


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.

Synonyms: Selective cobalamin malabsorption with proteinuria, Familial megaloblastic anemia