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Granulocyte dysfunction in transcobalamin II deficiency responding to leucovorin or hydroxocobalamin‐plasma transfusion
Author(s) -
Seger R.,
FràterSchröder Marijke,
Hitzig W. H.,
Wildefeuer A.,
Linnell J. C.
Publication year - 1980
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf02312515
Subject(s) - hydroxocobalamin , cobalamin , granulocyte , medicine , cyanocobalamin , cofactor , endocrinology , immunology , chemistry , biochemistry , vitamin b12 , enzyme
Granulocytes from a 6‐year‐old boy with congenital transcobalamin II (TCII) 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.