Clinical and biochemical findings of two siblings with formiminotransferase deficiency syndrome in a family were described and a hereditary background of this disorder was suggested.
A probably new entity of metabolic error of folic acid was described of an infant whose clinical and biochemical characteristics were: 1) mental retarda tion and a marked dilatation of cerebral ventricles, 2) abnormally high serum L. casei folate activity, 3) abnormally high levels of folate precursor in erythrocytes, and 4) a marked rise in reticulocyte count by an exogenous folate supplementation.The results of investigation on tetrahydrofolate -dependent enzymes of liver specimens revealed a decreased activity of N5 methyltetrahydrofolate transferase of our own patient.It seems therefore likely that an impaired utilization of N5 methyltetrahy drofolate and its precursor in tissues due to a decreased activity of N5 methyl tetrahydrofolate transferase led to an abnormal accumulation of N5 methyl tetrahydrofolate and its precursor in serum and erythrocytes, and that trapping of folate compounds at an N5 methyltetrahydrofolate level caused a functional deficiency of folates with sequence of development of a megaloblastic change in the bone marrow and of an impaired purine biosynthesis of the brain with a marked dilatation of cerebral ventricles.
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