title: [Hereditary juvenile cobalamin deficiency due to mutations in GIF gene].
abstract: Inborn errors of cobalamin (Cbl) metabolism affect its absorption, transport, as well as its intracellular metabolism. Hereditary juvenile megaloblastic anaemia due to cobalamin deficiency, results from defects in Cbl absorption. There is a lack of vitamin B12 in congenital pernicious anaemia due to intrinsic factor deficiency and megaloblastic anaemia 1 due to selective intestinal malabsorption of vitamin B12 or Imerslund-Gräsbeck syndrome. Differential diagnosis can't be accomplished only by clinical and biochemical findings. We present a patient from Spain with a megaloblastic anaemia due to intrinsic factor deficiency (IFD). The patient is a compound heterozygous in GIF gene for a splice site mutation inherited from his mother and a missense change inherited from his father. The identification of disease-causing mutations in specific genes has improved our ability to diagnose many of these conditions.
authors.affiliation: Unidad de Metabolismo, Hospital Universitario Infantil Miguel Servet, Saragossa, Spain. igarciaji@salud.aragon.es
authors.forename: M C
authors.initials: MC
authors.lastname: García Jiménez
authors.forename: A
authors.initials: A
authors.lastname: Baldellou Vázquez
authors.forename: M T
authors.initials: MT
authors.lastname: Calvo Martín
authors.forename: G
authors.initials: G
authors.lastname: Pérez-Lungmus
authors.forename: J
authors.initials: J
authors.lastname: López Pisón
mesh_terms: D002675:Child, Preschool; D006801:Humans; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D013577:Syndrome; D033921:Vesicular Transport Proteins / Q000235:genetics*; D014806:Vitamin B 12 Deficiency / Q000235:genetics*
chemical_list: C502451:CCDC88A protein, human; D008840:Microfilament Proteins; D033921:Vesicular Transport Proteins