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GTR Home > Conditions/Phenotypes > Uridine-cytidineuria

Uridine-cytidineuria

Summary

Uridine-cytidineuria (URCTU) is an inborn error of metabolism comprising increased excretion of the pyrimidine nucleosides. This condition has been identified incidentally and may be a benign metabolic phenotype (summary by Wevers et al., 2019). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CNT1, HCNT1, URCTU, SLC28A1
    Summary: solute carrier family 28 member 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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