Orotic aciduria

Orotic aciduria refers to an autosomal genetic condition characterized by excessive excretion of orotic acid in urine. It is characterized by a deficiency in UMP (uridine monophosphate) synthase, an enzyme that normally converts orotic acid into another product called uridine monophosphate. People with orotic aciduria present with failure to thrive, poor physical and mental development, and megaloblastic anemia. The treatment may involve the replacement of uridine monophosphate.