Granulocyte dysfunction in transcobalamin II deficiency responding to leucovorin or hydroxocobalamin-plasma transfusion.
Granulocytes from a 6-year-old boy with congenital transcobalamin II (TC II) deficiency were found to have abnormally low antibacterial activity against Staphylococcus aureus and very low intracellular levels of the cobalamin coenzymes. Transfusion of hydroxocobalamin (OH-Cbl) bound to normal plasma temporarily restored granulocyte bactericidal activity and increased cellular levels of the cobalamin coenzymes. Granulocyte function was also temporarily restored by oral Leucovorin. The defect appeared to be causally related to the patient's TC II deficiency and indirectly to a deficiency of cobalamin and folate coenzymes.
D001798:Blood Proteins / Q000172:deficiency*; D001803:Blood Transfusion; D002648:Child; D006098:Granulocytes / Q000502:physiology; D006801:Humans; D006879:Hydroxocobalamin / Q000627:therapeutic use*; D002955:Leucovorin / Q000627:therapeutic use*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000503:physiopathology / Q000628:therapy; D010585:Phagocyte Bactericidal Dysfunction / Q000628:therapy*; D014155:Transcobalamins / Q000172:deficiency*
D001798:Blood Proteins; D014155:Transcobalamins; D006879:Hydroxocobalamin; D002955:Leucovorin