遗传性乳清酸尿症与乳清苷的排泄

Hereditary Orotic Aciduria and the Excretion of Orotidine.

作者信息

Nyhan William L, Gangoiti Jon A

机构信息

Biochemical Genetics Laboratory, Department of Pediatrics, University of California San Diego, La Jolla, California, United States.

出版信息

Neuropediatrics. 2016 Dec;47(6):408-409. doi: 10.1055/s-0036-1587594. Epub 2016 Aug 30.

DOI:10.1055/s-0036-1587594

PMID:27574833

Abstract

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. The analysis of orotidine by gas chromotography mass spectrometry was conducted. Patients with orotic aciduria with and without megaloblastic anemia cannot be distinguished by ratio of orotic acid to orotidine.

摘要

在一名接受了超过10年研究的患者中观察到乳清酸尿症和尿苷单磷酸合成酶缺乏症，该患者无巨幼细胞贫血。乳清酸和乳清苷的排泄量分别为8.24和0.52 mmol/mol肌酐。15.85的比值与报道的6例无巨幼细胞贫血患者的比值有明显差异。采用气相色谱 - 质谱法对乳清苷进行了分析。有和无巨幼细胞贫血的乳清酸尿症患者不能通过乳清酸与乳清苷的比值来区分。