Abstract
Granulocytes from a 6-year-old boy with congenital transcobalamin II (TCII) deficiency were found to have abnormally low antibacterial activity againstStaphylococcus 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.
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Dedicated to Professor A. Prader on his 60th birthday
We are indebted to Professor Baehner, Professor Boxer and Mr Allen for advice and instruction with certain granulocyte function tests used in this study. We are grateful to Dr Tuchschmid for performing the G6PD assay, to Dr Sauer of the Robert-Bosch Hospital, Stuttgart, for helpful discussions and to Dr Exner and Dr Winklehner for their help in the care of the patient. Miss Borchert. Miss HÄkkinen and Miss Schmid provided expert technical assistance.
Financial support from the Wellcome Trust, EMDO-Stif tung and Hartmann-Müller-Stiftung is gratefully acknowledged.
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Seger, R., Fràter-Schröder, M., Hitzig, W.H. et al. Granulocyte dysfunction in transcobalamin II deficiency responding to leucovorin or hydroxocobalamin-plasma transfusion. J Inherit Metab Dis 3, 3–9 (1980). https://doi.org/10.1007/BF02312515
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DOI: https://doi.org/10.1007/BF02312515