OROTIC ACIDURIA - DIFFERING ENZYME PATTERNS

Two patients with orotic aciduria are described. In one the condition was associated with gross congenital defects and reduced levels of erythrocyte orotidylic pyrophosphorylase and orotidylic decarboxylase. In the other erythrocytes were deficient in orotidylic decarboxylase but orotidylic pyrophosphorylase activity was increased. Both patients had a hematologic remission following treatment with uridine. This is the first report of a patient with orotic aciduria solely due to the lack of orotidylic decarboxylase. © 1969.