Abstract
AbstractMetabolic studies on a transcobalamin II deficient child during apparent haematological remission revealed abnormally low erythrocyte levels of cobalamin‐ and folate‐coenzymes and highly unusual morphology of erythrocytes. Transfusion with hydroxocobalamin‐supplemented plasma temporarily normalized the child's erythrocyte adenosylcobalamin and methylcobalamin. Subsequent oral leucovorin increased erythrocyte levels of low‐polyglutamate folate. These findings provide further evidence that TCII may be involved not only in cellular cobalamin uptake but also in intracellular conversion of the cobalamin coenzymes and polyglutamate folates.
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