Other Names for this Disease
- Defect of enterocyte intrinsic factor receptor
- Enterocyte cobalamin malabsorption
- Familial megaloblastic anemia
- Gräsbeck-Imerslund disease
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Affected individuals often first experience non-specific health problems, such as failure to thrive and grow, recurrent gastrointestinal or respiratory infections, pallor and fatigue. Individuals often have anemia, and about half of affected individuals also have mild proteinuria but no signs of kidney disease. Individuals may also have mild neurological damage. Congenital (present at birth) abnormalities of the urinary tract were present in some of the original reported cases. The age at diagnosis is usually anywhere from a few months of age to about 14 years of age.
Last updated: 1/6/2014
- Ralph Gräsbeck. Imerslund-Gräsbeck syndrome (selective vitamin B12 malabsorption with proteinuria). Orphanet J Rare Dis. May 19, 2006; 1(17):Accessed 1/6/2014.
- Ralph Gräsbeck. Gräsbeck-Imerslund disease. Orphanet. May, 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=35858. Accessed 1/6/2014.