Article
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.
Journal of inherited metabolic disease - 1 May 2017
Wortmann Saskia B, Chen Margaret A, Colombo Roberto, Pontoglio Alessandro, Alhaddad Bader, Botto Lorenzo D, Yuzyuk Tatiana, Coughlin Curtis R, Descartes Maria, Grűnewald Stephanie, Maranda Bruno, Mills Philippa B, Pitt James, Potente Catherine, Rodenburg Richard, Kluijtmans Leo A J, Sampath Srirangan, Pai Emil F, Wevers Ron A, Tiller George E
Abstract excerpt
BACKGROUND: Elevated urinary excretion of orotic acid is associated with treatable disorders of the urea cycle and pyrimidine metabolism. Establishing the correct and timely diagnosis in a patient with orotic aciduria is key to effective treatment. Uridine monophosphate synthase is involved in de novo pyrimidine synthesis. Uridine monophosphate synthase deficiency (or hereditary orotic aciduria), due to biallelic...
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