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

ABSTRACT:

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 mutations in UMPS, is a rare condition presenting with megaloblastic anemia in the first months of life. If not treated with the pyrimidine precursor uridine, neutropenia, failure to thrive, growth retardation, developmental delay, and intellectual disability may ensue.

Methods and results

We identified mild and isolated orotic aciduria in 11 unrelated individuals wi

SUBMITTER: Wortmann SB 

PROVIDER: S-EPMC5393157 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature