orotic aciduria
- Related Topics:
- inborn error of metabolism
orotic aciduria, hereditary metabolic disorder characterized by an anemia with many large immature red blood cells, low white blood cell count, retarded growth, and the urinary excretion of large quantities of orotic acid, an intermediate in the synthesis of pyrimidine nucleotides. The disease is caused by deficiency of the enzymes orotidylic pyrophosphorylase and orotidylic decarboxylase, or by deficiency only of the latter. These enzymes normally catalyze the formation of uridine monophosphate from orotic acid during pyrimidine synthesis. The disorder is extremely rare; it is transmitted recessively, and carriers of the trait can be detected by an examination of their white blood cells. The administration of pyrimidines usually brings about the remission of the anemia.