Orotic Aciduria Hereditary
Orotic Aciduria Hereditary Causes
Orotic aciduria in its hereditary form, may be caused by a deficiency in the enzyme UMPS, which is a bifunctional protein that includes the enzyme activities of orotate phosphoribosyltransferase, and orotidine 5'-phosphate decarboxylase. The condition may also result due a blockage of the urea cycle, specifically ornithine transcarbamylase deficiency.
Orotic Aciduria Hereditary Definition
Orotic aciduria is the excessive excretion of orotic acid in the urine.
Orotic Aciduria Hereditary Symptoms and Signs
Patients have excess orotic acid in the urine and megaloblastic anemia. The condition may inhibit RNA and DNA synthesis resulting in the patient's failure to thrive, which may lead to mental and physical retardation.
Orotic Aciduria Hereditary Treatment
Patients are administered with cytidine monophosphate and uridine monophosphate to reduce urinary orotic acid and anemia. They may also be administered with uridine, which when converted to UMP, bypasses the metabolic block provide a source of pyrimidine for the body.