Erythrocyte Formiminotransferase Activity in Formiminotransferase Deficiency Syndrome

Formiminotransferase activity was estimated on erythrocyte lysates obtained from two cases with the formiminotransferase deficiency syndrome, and was found to be markedly decreased in both the cases as compared with that of controls. This finding suggested that an estimation of formiminotransferase activity of erythrocyte lysates might be used as a tool for diagnosis of this syndrome. Clinical and biochemical findings of the third case of formiminotransferase deficiency syndrome were described.