Transcobalamin II deficiency: long-term follow-up of two cases.
Two Spanish siblings, a boy and girl, with transcobalamin II (TCII) deficiency are described. Both have grown and developed mentally normally after 10 years of vitamin B12 therapy. Two other siblings died soon after birth and it is almost certain that they also suffered from TCII deficiency.
D000749:Anemia, Megaloblastic / Q000097:blood / Q000188:drug therapy / Q000235:genetics; D002648:Child; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D012801:Sibling Relations; D013577:Syndrome; D014155:Transcobalamins / Q000172:deficiency*; D014805:Vitamin B 12 / Q000627:therapeutic use
D014155:Transcobalamins; D014805:Vitamin B 12