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Orotic aciduria hereditary

Orpha number ORPHA30
Prevalence of rare diseases <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD 10 code
  • D53.0
MIM number
Synonym(s) Oroticaciduria
Orotidylic decarboxylase deficiency
Uridine monophosphate synthetase deficiency

Summary

Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*.

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