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A form of Imerslund-Grasbeck syndrome, 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 infancy or early childhood. Clinical manifestations include failure to thrive, infections and neurological damage. Mild proteinuria, with no signs of kidney disease, is present in about half of the patients.




Defect of enterocyte intrinsic factor receptor
Enterocyte cobalamin malabsorption
Megaloblastic anemia, Finnish type
Megaloblastic anemia 1
Pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin B12, with proteinuria


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