title: Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN.
abstract: Imerslund-Gräsbeck syndrome is a rare autosomal recessive disorder, characterized by vitamin B12 deficiency due to selective malabsorption of the vitamin and usually results in megaloblastic anemia appearing in childhood. It is responsive to parenteral vitamin B12 therapy.The estimated prevalence (calculated based on Scandinavian data) is less than 6:1,000,000. However, many cases may be misdiagnosed.When there is reasonable evidence to suspect that a patient suffers from IGS, a new and straightforward approach to diagnosis is mutational analysis of the appropriate genes. We report for the first time the case of a girl of Italian ancestry with IGS genetically confirmed by the detection of a homozygous missense mutation in the AMN gene (c.208-2 A > G).
authors.affiliation: Servizio di Endocrinologia Pediatrica, AORN "Gaetano Rummo", Benevento, Italy. gianpaolo.defilippo@bct.aphp.fr.
authors.forename: Gianpaolo
authors.initials: G
authors.lastname: De Filippo
authors.forename: Domenico
authors.initials: D
authors.lastname: Rendina
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Rocco
authors.forename: Teresa
authors.initials: T
authors.lastname: Esposito
authors.forename: Fernando
authors.initials: F
authors.lastname: Gianfrancesco
authors.forename: Pasquale
authors.initials: P
authors.lastname: Strazzullo
mesh_terms: D000749:Anemia, Megaloblastic; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006720:Homozygote; D006801:Humans; D007558:Italy; D008286:Malabsorption Syndromes / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics*; D008565:Membrane Proteins; D020125:Mutation, Missense; D011506:Proteins / Q000235:genetics*; D011507:Proteinuria / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics*; D035583:Rare Diseases; D018570:Risk Assessment; D012720:Severity of Illness Index; D016896:Treatment Outcome; D014805:Vitamin B 12 / Q000627:therapeutic use*; D014806:Vitamin B 12 Deficiency / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics*
chemical_list: C484714:AMN protein, human; D008565:Membrane Proteins; D011506:Proteins; D014805:Vitamin B 12
references.citation: Metabolism. 2004 Aug;53(8):1016-20
references.pmid: 15281011
references.citation: Postgrad Med J. 1981 Aug;57(670):509-10
references.pmid: 7301700
references.citation: J Bone Miner Res. 2005 Jun;20(6):921-9
references.pmid: 15883631
references.citation: Am J Pediatr Hematol Oncol. 1994 May;16(2):177-80
references.pmid: 8166372
references.citation: Orphanet J Rare Dis. 2011 Nov 13;6:74
references.pmid: 22078000
references.citation: Blood. 2004 Mar 1;103(5):1573-9
references.pmid: 14576052
references.citation: Hum Mutat. 2004 Apr;23(4):327-33
references.pmid: 15024727
references.citation: Orphanet J Rare Dis. 2006 May 19;1:17
references.pmid: 16722557
references.citation: Proc Natl Acad Sci U S A. 2005 Mar 15;102(11):4130-3
references.pmid: 15738392
references.citation: Nat Genet. 1999 Mar;21(3):309-13
references.pmid: 10080186
references.citation: Acta Paediatr Suppl. 1960 Jan;49(Suppl 119):1-115
references.pmid: 13852753
references.citation: J Lab Clin Med. 1953 Dec;42(6):860-6
references.pmid: 13109347
references.citation: Nat Genet. 2003 Mar;33(3):426-9
references.pmid: 12590260
references.citation: Pediatr Res. 2011 Sep;70(3):222-8
references.pmid: 21623254
references.citation: Hematology. 2005;10 Suppl 1:227-8
references.pmid: 16188678
references.citation: Hematology Am Soc Hematol Educ Program. 2003;:62-81
references.pmid: 14633777
references.citation: Arch Pediatr. 1997 Sep;4(9):862-6
references.pmid: 9345569
references.citation: Acta Med Scand. 1960 Jul 15;167:289-96
references.pmid: 13828999