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Neuropediatrics 2016; 47(06): 408-409
DOI: 10.1055/s-0036-1587594
Letter to the Editor
Georg Thieme Verlag KG Stuttgart · New York

Hereditary Orotic Aciduria and the Excretion of Orotidine

William L. Nyhan
1   Biochemical Genetics Laboratory, Department of Pediatrics, University of California San Diego, La Jolla, California, United States
,
Jon A. Gangoiti
1   Biochemical Genetics Laboratory, Department of Pediatrics, University of California San Diego, La Jolla, California, United States
› Author Affiliations
Further Information

Publication History

02 May 2016

30 June 2016

Publication Date:
30 August 2016 (online)

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Abstract

Objective Orotic 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.

Methods The analysis of orotidine by gas chromotography mass spectrometry was conducted.

Conclusion Patients with orotic aciduria with and without megaloblastic anemia cannot be distinguished by ratio of orotic acid to orotidine.

Keywords

orotic aciduria - orotidine - megaloblastic anemia
 

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