Article
How can cobalamin injections be spaced in long-term therapy for inborn errors of vitamin B(12) absorption?
Molecular genetics and metabolism - 1 Sept 2012
Boina Abdallah Amina, Ogier de Baulny Hélène, Kozyraki Renata, Passemard Sandrine, Fenneteau Odile, Lebon Sophie, Rigal Odile, Mesples Bettina, Yacouben Karima, Giraudier Stéphane, Benoist Jean-François, Schiff Manuel
Abstract excerpt
Inborn errors of cobalamin (Cbl, vitamin B(12)) absorption include hereditary intrinsic factor deficiency (HIFD) and Imerslund-Gräsbeck disease (IGD). HIFD is secondary to mutations in the HIF gene while IGD is due to mutations in one of the 2 subunits of the intrinsic factor receptor that is cubilin (CUBN) or amnionless (AMN). These disorders lead to intracellular Cbl depletion which in turn causes megaloblastic...
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