Absent ileal uptake of IF-bound vitamin B12 in vivo in the Imerslund-Grasbeck syndrome (familial vitamin B12 malabsorption with proteinuria).
A Syrian family is described with three children who had inherited selective vitamin B12 malabsorption associated with proteinuria. (Imerslund-Grasbeck syndrome). Although inherited the defect was apparently not present at birth. A third child had less severe vitamin B12 malabsorption, was not vitamin B12 deficient and had no proteinuria. Studies on two of the affected children with subcellular fractionation of the uptake of radioactive vitamin B12 by ileal tissue in vivo indicate a defect in the ileal receptors for IF-bound vitamin B12. These findings are different from the single in vitro experiment on a patient with this condition that has been previously reported.
D000293:Adolescent; D000328:Adult; D000749:Anemia, Megaloblastic / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007082:Ileum / Q000378:metabolism*; D007223:Infant; D008286:Malabsorption Syndromes / Q000235:genetics* / Q000378:metabolism; D008297:Male; D011507:Proteinuria / Q000378:metabolism*; D013347:Subcellular Fractions / Q000378:metabolism; D013577:Syndrome; D014805:Vitamin B 12 / Q000378:metabolism*
D014805:Vitamin B 12