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Other Names for this Disease
- Defect of Enterocyte intrinsic factor receptor
- Enterocyte cobalamin malabsorption
- Megaloblastic syndrome 1
- Pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria
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vitamin B12 deficiency commonly resulting in megaloblastic anemia. IGS usually appears in childhood. Other features may include failure to thrive, infections, and neurological damage. Mild proteinuria (with no signs of kidney disease) is present in about half of affected individuals. Management includes life-long vitamin B12 injections, and with this treatment, affected individuals can stay healthy for decades. Imerslund-Grasbeck syndrome is caused by mutations in either the CUBN gene or the AMN gene and is inherited in an autosomal recessive fashion.Imerslund-Grasbeck syndrome (IGS) is a rare condition characterized by
Last updated: 7/6/2011
- Grasbeck R. Imerslund-Grasbeck syndrome. Orphanet. May 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=35858. Accessed 7/6/2011.
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