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Hereditary orotic aciduria

Summary

Orotic aciduria is a rare autosomal recessive disorder characterized by megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. These features respond to appropriate pyrimidine replacement therapy, and most cases appear to have a good prognosis. A minority of cases have additional features, particularly congenital malformations and immune deficiencies, which may adversely affect this prognosis (summary by Webster et al., 2001). Bailey (2009) stated that only 2 cases of orotic aciduria without megaloblastic anemia (OAWA) had been reported. [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: OPRT, UMPS
    Summary: uridine monophosphate synthetase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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