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Selective vitamin B12 malabsorption in two siblings.

S Khakee, A Stachewitsch, M Katz

    Canadian Medical Association Journal
    |January 5, 1974
    PubMed
    Summary

    Two siblings experienced vitamin B12 deficiency due to familial selective vitamin B12 malabsorption. This rare condition impairs nutrient absorption despite normal intrinsic factor and digestive function.

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    Area of Science:

    • Hematology
    • Gastroenterology
    • Nutritional Science

    Background:

    • Megaloblastic anemia can result from vitamin B12 deficiency.
    • Parenteral vitamin B12 administration corrects anemia but doesn't reveal the cause of deficiency.

    Purpose of the Study:

    • To investigate the cause of vitamin B12 deficiency in two siblings with megaloblastic anemia.
    • To characterize the rare condition of familial selective vitamin B12 malabsorption.

    Main Methods:

    • Assessed gastric acid and intrinsic factor levels.
    • Performed Schilling tests with and without intrinsic factor and pancreatic extract.
    • Evaluated other small intestinal function parameters.
    • Monitored for proteinuria.

    Main Results:

    • Both siblings had functional intrinsic factor and lacked antibodies to it.
    • Schilling tests indicated vitamin B12 malabsorption unresponsive to intrinsic factor or pancreatic extract.
    • Small intestinal function tests were normal.
    • Proteinuria resolved in one sibling after vitamin B12 treatment.

    Conclusions:

    • The siblings presented with familial selective vitamin B12 malabsorption, a rare disorder.
    • This condition is characterized by B12 malabsorption despite normal intrinsic factor and pancreatic function.
    • This study reports the first Canadian cases of this rare genetic disorder.

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