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Haptocorrin deficiency is rare but relatively benign with no reports of elevated homocysteine in these patients ( GIF (gastric intrinsic factor) gene and usually presents during infancy, after vitamin B12 stores are depleted ( Hyperhomocysteinemia and elevated MMA can also arise from Imerslund-Gräsbeck syndrome—a rare autosomal recessive disorder caused by mutations in either the CUBN or AMN gene responsible for the synthesis of IF receptors (cubam) in the ileum (distal region of the small intestine) ( Transcobalamin deficiency is a rare autosomal recessive disorder arising from mutations in the transcobalamin ( TCN2 ) gene ( The transcobalamin receptor (CD320) was recently identified ( An important advance related to homocysteine has been the detailed characterization of intracellular vitamin B12 metabolism (Figure 3) ( in vitro somatic complementation analysis ( Figure 3 The cblC defect, although the commonest, is still rare, arising in approximately 1/200,000 births ( Treatment of inherited disorders of vitamin B12 absorption, transport, uptake and metabolism typically includes regular, high-dose intramuscular injections of vitamin B12 in the form of cyanocobalamin (standard in the United States), hydroxycobalamin (standard in Europe), or increasingly methylcobalamin