Orotic aciduria

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.

Also known as: Hereditary Orotic Aciduria, orotic aciduria, oroticaciduria, orotidylic decarboxylase deficiency, uridine monophosphate synthetase deficiency, OPRT and ODC deficiency, UMP synthtase deficiency, UMPS

65 clinical trials for this condition and its sub-types.