Ontology highlight
ABSTRACT:
SUBMITTER: Tanner SM
PROVIDER: S-EPMC554821 | biostudies-literature | 2005 Mar
REPOSITORIES: biostudies-literature
Tanner Stephan M SM Li Zhongyuan Z Perko James D JD Oner Cihan C Cetin Mualla M Altay Cigdem C Yurtsever Zekiye Z David Karen L KL Faivre Laurence L Ismail Essam A EA Gräsbeck Ralph R de la Chapelle Albert A
Proceedings of the National Academy of Sciences of the United States of America 20050228 11
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 of families clinically diagnosed with likely IGS, at least six displayed no evidenc ...[more]