/orotic aciduria

orotic aciduria

Rare Disease

MONDO:0009797

Also Known As

Hereditary Orotic Aciduriaorotic aciduriaoroticaciduriaorotidylic decarboxylase deficiencyuridine monophosphate synthetase deficiencyOPRT and ODC deficiencyUMP synthtase deficiencyUMPSUmp synthase deficiencyUmps deficiencyhereditary orotic aciduriaorotate phosphoribosyltransferase and OMP decarboxylase deficiencyorotate phosphoribosyltransferase and orotidylic decarboxylase deficiencyorotic aciduria 1orotic aciduria II (formerly)orotic aciduria type 1orotic aciduria without megaloblastic Anaemiaorotic aciduria without megaloblastic Anemiaoroticaciduria 1orotidylic pyrophosphorylase and orotidylic decarboxylase deficiencyuridine monophosphate synthase deficiency

Definition

An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine.