Research & Literature

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2015; (17(5)):405-24 doi:10.1038/gim.2015.30.

Hereditary orotic aciduria with epilepsy and without megaloblastic anemia.

Grohmann K, Lauffer H, Lauenstein P, et al.

Neuropediatrics 2015; (46(2)):123-5 doi:10.1055/s-0035-1547341.

Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.

Choi JH, Lee BH, Kim JH, et al.

Journal of human genetics 2015; (60(9)):501-7 doi:10.1038/jhg.2015.54.

FDA Approval: Uridine Triacetate for the Treatment of Patients Following Fluorouracil or Capecitabine Overdose or Exhibiting Early-Onset Severe Toxicities Following Administration of These Drugs.

Ison G, Beaver JA, McGuinn WD, et al.

Clinical cancer research : an official journal of the American Association for Cancer Research 2016; (22(18)):4545-9 doi:10.1158/1078-0432.CCR-16-0638.

Orotate (orotic acid): An essential and versatile molecule.

Löffler M, Carrey EA, Zameitat E

Nucleosides, nucleotides & nucleic acids 2016; (35(10-12)):566-577 doi:10.1080/15257770.2016.1147580.

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.

Wortmann SB, Chen MA, Colombo R, et al.

Journal of inherited metabolic disease 2017; (40(3)):423-431 doi:10.1007/s10545-017-0015-9.

Conditional disruption of hepatic carbamoyl phosphate synthetase 1 in mice results in hyperammonemia without orotic aciduria and can be corrected by liver-directed gene therapy.

Khoja S, Nitzahn M, Hermann K, et al.

Molecular genetics and metabolism 2018; (124(4)):243-253 doi:10.1016/j.ymgme.2018.04.001.

Triacetyluridine treats epileptic encephalopathy from CAD mutations: a case report and review.

Frederick A, Sherer K, Nguyen L, et al.

Annals of clinical and translational neurology 2021; (8(1)):284-287 doi:10.1002/acn3.51257.

Hereditary orotic aciduria (HOA): A novel uridine-5-monophosphate synthase (UMPS) mutation.

Al Absi HS, Sacharow S, Al Zein N, et al.

Molecular genetics and metabolism reports 2021; (26()):100703 doi:10.1016/j.ymgmr.2020.100703.

Case Report: A Novel Missense Mutation c.517G>C in the UMPS Gene Associated With Mild Orotic Aciduria.

Ma R, Ye J, Han J, et al.

Frontiers in neurology 2022; (13()):819116 doi:10.3389/fneur.2022.819116.

N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria: A case report.

Selvanathan A, Demetriou K, Lynch M, et al.

JIMD reports 2022; (63(5)):420-424 doi:10.1002/jmd2.12318.

Human uridine 5'-monophosphate synthase stores metabolic potential in inactive biomolecular condensates.

Kim-Holzapfel DM, Dey R, Richardson BC, et al.

The Journal of biological chemistry 2023; (299(3)):102949 doi:10.1016/j.jbc.2023.102949.

Hereditary orotic aciduria identified by newborn screening.

Staretz-Chacham O, Damseh NS, Daas S, et al.

Frontiers in genetics 2023; (14()):1135267 doi:10.3389/fgene.2023.1135267.

Review of the fluoropyrimidine antidote uridine triacetate.

Thompson JT, Wood DM, Dargan PI

British journal of clinical pharmacology 2025; (91(3)):615-627 doi:10.1111/bcp.16319.

The Loop-In Binding Mode of Dihydroorotase: Implications for Ligand Binding and Therapeutic Targeting.

Huang CY

International journal of molecular sciences 2025; (26(3)) doi:10.3390/ijms26031359.