Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin

An infant with deficiency of transcobalamin II (TCII) presented with virtually complete falure to thrive and life-threatening pancytopenia. Methylmalonic acid and homocystine were found in the urine. The concentration of B₁₂ in the serum was 26 pg/ml. Fibroblasts derived from the patients failed to take up labeled cobalamin in the absence of a source of TCII. Uptake was normal in the presence of TCII. Treatment with parenteral cobalamin reversed the clinical and hematological manifestations of the disease but she developed glossitis when the interval between injections was lengthened. Intestinal absorption of ⁵⁷Co-cobalamin was less than 1% and remained abnormal when highly purified human intrinsic factor was given along with the labeled B₁₂. Absorption improved when the labeled B₁₂ was given together with rabbit TCII. The data suggest that TCII as well as intrinsic factor is required for transport of cobalamin from the intestine to the blood.