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Hereditary orotic aciduria

Disease definition

A rare genetic disorder of pyrimidine metabolism characterized by early onset of megaloblastic anemia, global developmental delay, and failure to thrive, associated with massive urinary overexcretion of orotic acid (sometimes with orotic acid crystalluria). Patients without megaloblastic anemia, but with additional manifestations such as epilepsy, have also been reported.

ORPHA:30

Classification level: Disorder
  • Synonym(s):
    • Orotidylic decarboxylase deficiency
    • Uridine monophosphate synthetase deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E79.8
  • ICD-11: 3A03.0
  • OMIM: 258900
  • UMLS: C0220987
  • MeSH: C537136
  • GARD: 5429
  • MedDRA: 10052621

  A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020) Deutsch (2006) Italiano (2006)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.