Matches in DBpedia 2016-04 for { ?s ?p "Imerslund–Gräsbeck syndrome, also known as Imerslund–Najman–Gräsbeck syndrome, Imerslund–Gräsbeck disease (IGS or INGS), Imerslund syndrome, congenital cobalamin malabsorption or autosomal recessive megaloblastic anemia (MGA1), is a rare autosomal recessive, familial form of vitamin B12 deficiency caused by malfunction of the "Cubam" receptor located in the terminal ileum. This receptor is composed of two proteins, amnionless (AMN), and cubilin. A defect in either of these protein components can cause this syndrome. This is a rare disease, with a prevalence about 1 in 200,000, and is usually seen in patients of European ancestry.Vitamin B12 is an important vitamin needed for bone marrow functioning, the deficit of which causes decreased marrow output and anemia. Vitamin B12 has two forms, one of which, along with folate, is important in DNA synthesis. Vitamin B12 is sensitive to acid deformation in the stomach, so a molecule called haptocorrin (R-factor), protects it in the stomach. In the small bowel, a molecule named intrinsic factor (IF), allows vitamin B12 to be absorbed in the ileum. IGS is caused by a mutation in the receptors located in the terminal portion of ileum. This is a very rare, and unlikely cause of vitamin B12 deficiency but is a cause nonetheless."@en }
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- Q2625072 abstract "Imerslund–Gräsbeck syndrome, also known as Imerslund–Najman–Gräsbeck syndrome, Imerslund–Gräsbeck disease (IGS or INGS), Imerslund syndrome, congenital cobalamin malabsorption or autosomal recessive megaloblastic anemia (MGA1), is a rare autosomal recessive, familial form of vitamin B12 deficiency caused by malfunction of the "Cubam" receptor located in the terminal ileum. This receptor is composed of two proteins, amnionless (AMN), and cubilin. A defect in either of these protein components can cause this syndrome. This is a rare disease, with a prevalence about 1 in 200,000, and is usually seen in patients of European ancestry.Vitamin B12 is an important vitamin needed for bone marrow functioning, the deficit of which causes decreased marrow output and anemia. Vitamin B12 has two forms, one of which, along with folate, is important in DNA synthesis. Vitamin B12 is sensitive to acid deformation in the stomach, so a molecule called haptocorrin (R-factor), protects it in the stomach. In the small bowel, a molecule named intrinsic factor (IF), allows vitamin B12 to be absorbed in the ileum. IGS is caused by a mutation in the receptors located in the terminal portion of ileum. This is a very rare, and unlikely cause of vitamin B12 deficiency but is a cause nonetheless.".