title: [Homozygous mutation in the intrinsic factor gene in a child with severe vitamin B12 deficiency].
abstract: A 28 month-old boy was hospitalized with pallor and weight stagnation. He had macrocytic anaemia and pancytopenia due to cobalamin deficiency and a rare homozygous mutation in the intrinsic factor gene. His sister showed similar symptoms at the age of 15 months. The heterozygous father had no symptoms, but did have a low cobalamin level. Gastroscopy with biopsies showed no pathology. All were given monthly cyanocobalamin injections which, however, caused leg cramps. Replacement with monthly hydroxocobalamin was successful.
authors.affiliation: Børneafdelingen, Aarhus Universitetshospital, Aalborg Sygehus, 9000 Aalborg, Denmark. tll@rn.dk
authors.forename: Tina Lund
authors.initials: TL
authors.lastname: Leunbach
authors.forename: Preben
authors.initials: P
authors.lastname: Johansen
authors.forename: Stephan M
authors.initials: SM
authors.lastname: Tanner
authors.forename: Ralph
authors.initials: R
authors.lastname: Gräsbeck
authors.forename: Jon
authors.initials: J
authors.lastname: Helgestad
mesh_terms: D002675:Child, Preschool; D005260:Female; D006128:Growth; D006720:Homozygote; D006801:Humans; D006879:Hydroxocobalamin / Q000008:administration & dosage; D007223:Infant; D007437:Intrinsic Factor / Q000235:genetics*; D008297:Male; D009154:Mutation; D014806:Vitamin B 12 Deficiency / Q000188:drug therapy / Q000235:genetics*; D014803:Vitamin B Complex / Q000008:administration & dosage
chemical_list: D014803:Vitamin B Complex; D007437:Intrinsic Factor; D006879:Hydroxocobalamin