title: Hereditary Orotic Aciduria and the Excretion of Orotidine.
abstract: ObjectiveOrotic aciduria and deficiency of uridine monophosphate synthetase have been observed in a patient, studied over 10 years, who had no megaloblastic anemia. Excretion of orotic acid and orotidine were 8.24 and 0.52 mmol/mol of creatinine. The ratio of 15.85 differed appreciably from that of 6 patients reported with no megaloblastic anemia.MethodsThe analysis of orotidine by gas chromotography mass spectrometry was conducted.ConclusionPatients with orotic aciduria with and without megaloblastic anemia cannot be distinguished by ratio of orotic acid to orotidine.
authors: Biochemical Genetics Laboratory, Department of Pediatrics, University of California San Diego, La Jolla, California, United States.
authors: William L
authors: WL
authors: Nyhan
authors: Biochemical Genetics Laboratory, Department of Pediatrics, University of California San Diego, La Jolla, California, United States.
authors: Jon A
authors: JA
authors: Gangoiti
mesh_terms: D002648:Child; D005260:Female; D006801:Humans; D009962:Orotate Phosphoribosyltransferase / Q000172:deficiency* / Q000187:drug effects / Q000652:urine; D009963:Orotic Acid / Q000652:urine*; D009964:Orotidine-5'-Phosphate Decarboxylase / Q000172:deficiency* / Q000187:drug effects / Q000652:urine; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000652:urine*; D014529:Uridine / Q000031:analogs & derivatives* / Q000627:therapeutic use / Q000652:urine; D055815:Young Adult
chemical_list: D009963:Orotic Acid; C008714:orotidine; D009962:Orotate Phosphoribosyltransferase; D009964:Orotidine-5'-Phosphate Decarboxylase; D014529:Uridine