Vitamin B12 deficiency anaemia

Definition:

Vitamin B12 deficiency anaemia is caused by intestinal malabsorption of cobalamin. Imerslund-Grasbeck syndrome (IGS) is an autosomal recessive disorder characterized by juvenile megaloblastic anaemia and neurological symptoms such as peripheral neuropathy, cognitive problems, and dementia. If untreated, the disease is fatal. Biallelic mutations either in the cubilin (CUBN) or amnionless (AMN) gene cause IGS. Both proteins are involved in intestinal absorption and renal tubular reabsorption. Hereditary intrinsic factor deficiency (IFD) is a phenotype that is caused by mutations in CBLIF, the gene encoding intrinsic factor.

References:

[1]. Gianpaolo De Filippo, et al. Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN. Ital J Pediatr. 2013 Sep 17;39:58. [Content Brief]

[2]. M Aminoff, et al. Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1. Nat Genet. 1999 Mar;21(3):309-13. [Content Brief]

[3]. Ralph Gräsbeck, et al. Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria). Orphanet J Rare Dis. 2006 May 19;1:17. [Content Brief]

[4]. Stephan M Tanner, et al. Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene. Proc Natl Acad Sci U S A. 2005 Mar 15;102(11):4130-3. [Content Brief]

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