Prev Term: orotate phosphoribosyltransferase deficiency
Next Term: orotidine 5 phosphate decarboxylase
orotic aciduria
Used for:
orotate phosphoribosyltransferase deficiency
Broader Terms:
enzyme deficiency
Broader Terms:
megaloblastic anemia
Broader Terms:
mental retardation
Broader Terms:
purine /pyrimidine metabolism disorder
Scope Note:
excess of orotic acid in the urine occurring in several metabolic disorders and also resulting from the administration of some drugs; one disorder is an autosomal recessive defect of pyrimidine metabolism due to deficiency of orate phosphoribosyltransferate or orotidine 5'-phosphatae decarboxylase.
Term Number:
1849-8113
Send your comments to: Melody Lowe