Article
Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene.
Proceedings of the National Academy of Sciences of the United States of America - 15 Mar 2005
Tanner Stephan M, Li Zhongyuan, Perko James D, Oner Cihan, Cetin Mualla, Altay Cigdem, Yurtsever Zekiye, David Karen L, Faivre Laurence, Ismail Essam A, Gräsbeck Ralph, de la Chapelle Albert
Abstract excerpt
Hereditary juvenile megaloblastic anemia due to vitamin B12 (cobalamin) deficiency is caused by intestinal malabsorption of cobalamin. In Imerslund-Grasbeck syndrome (IGS), cobalamin absorption is completely abolished and not corrected by the administration of intrinsic factor (IF); if untreated, the disease is fatal. Biallelic mutations either in the cubilin (CUBN) or amnionless (AMN) gene cause IGS. In a series...
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