title: Transcobalamin II deficiency with methylmalonic aciduria in three sisters.
abstract: Transcobalamin II (TC II) is a plasma protein that binds vitamin B12 (cobalamin, Cbl) and facilitates cellular Cbl uptake by receptor-mediated endocytosis. In autosomal recessive TC II deficiency, intracellular Cbl deficiency results in an early onset of megaloblastic anaemia that may be accompanied by neurological abnormalities. Inadequate treatment may lead to neurological abnormalities. We describe three sisters, the daughters of first cousins of Moroccan origin, with TC II deficiency requiring continuous and long-term vitamin B12 treatment. The diagnosis was suspected from the finding of low unsaturated vitamin B12 binding capacity and confirmed by absence of detectable TC II by radioimmunoassay and by inability of cultured fibroblasts to synthesize TC II.
authors.affiliation: Pediatric Department, Clinical Genetic Institute Barzilai Medical Center, Ashkelon, Israel.
authors.forename: H
authors.initials: H
authors.lastname: Bibi
authors.forename: Z
authors.initials: Z
authors.lastname: Gelman-Kohan
authors.forename: E R
authors.initials: ER
authors.lastname: Baumgartner
authors.forename: D S
authors.initials: DS
authors.lastname: Rosenblatt
mesh_terms: D002478:Cells, Cultured; D005260:Female; D005347:Fibroblasts / Q000166:cytology / Q000378:metabolism; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007662:Ketosis / Q000188:drug therapy / Q000503:physiopathology / Q000652:urine; D008661:Metabolism, Inborn Errors / Q000188:drug therapy / Q000378:metabolism* / Q000503:physiopathology / Q000652:urine; D008764:Methylmalonic Acid / Q000652:urine*; D011422:Propionates / Q000378:metabolism; D014155:Transcobalamins / Q000172:deficiency*; D016896:Treatment Outcome; D014805:Vitamin B 12 / Q000378:metabolism / Q000627:therapeutic use; D014806:Vitamin B 12 Deficiency / Q000188:drug therapy* / Q000503:physiopathology / Q000652:urine
chemical_list: D011422:Propionates; D014155:Transcobalamins; D008764:Methylmalonic Acid; D014805:Vitamin B 12