[Megaloblastic anemia caused by a congenital deficiency of transcobalamin II. Apropos of a new case].
Megaloblastic anaemia is very rare in the first weeks of life and it is related to impaired metabolism of folic acid or vitamin B12. One of this disorders is the congenital transcobalamin II deficiency. The case of a three month old infant, with vomiting, diarrhoea and severe anaemia is presented. Both parents and the child had very low or undetectable levels of serum TC II, respectively. Using i.m. hydroxycobalamin at high doses, the clinical and laboratory responses have been satisfactory.
Piñán
M A
MA
Navajas
A
A
Hall
C A
CA
Moya
E
E
Bezanilla
J L
JL
D000748:Anemia, Macrocytic / Q000209:etiology*; D000749:Anemia, Megaloblastic / Q000188:drug therapy / Q000209:etiology* / Q000235:genetics; D006801:Humans; D007223:Infant; D002955:Leucovorin / Q000627:therapeutic use; D008297:Male; D014155:Transcobalamins / Q000172:deficiency*; D014805:Vitamin B 12 / Q000378:metabolism
D014155:Transcobalamins; D014805:Vitamin B 12; D002955:Leucovorin
Anemia megaloblástica por déficit congénito de transcobalamina II (TC II). A propósito de un nuevo caso.