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Congenital IF deficiency Mutations in the IF gene (gene locus 11q13) can result in total absence of IF or an inactive or unstable IF protein: Causes B12 malabsorption Causes megaloblastic anemia in infants and young children Imerslund-Grasbeck syndrome or autosomal recessive megaloblastic anemia Mutations in the IF-receptor complex genes: Autosomal recessive disorder Causes of B12 malabsorption, and megaloblastic anemia at 1–5 y Various mutations have been identified in cubilin and an associated protein called amnionless (AMN) Because cubilin has other functions primarily in the kidney, 90% of patients with Imerslund-Grasbeck syndrome show nonspecific proteinuria, but otherwise normal renal function Congenital transcobalamin deficiency Transcobalamin (gene locus 22q11.2-qter) deficiency in infants Usually manifests as severe megaloblastic anemia within a few weeks of birth Serum B12 usually normal, because most is bound to haptocorrin Rare but should be suspected in infants with unexplained megaloblastic anemia

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Her decision to launch B12 RX & MORE stemmed from a desire to offer a more effective alternative to oral supplements