orotate phosphoribosyltransferase deficiency
[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. ( CSP )]
UMLS (CSP) C0268128- Disease or Syndrome
Relation/PAR: Anemia, Megaloblastic
Arrieration mentale
purine/pyrimidine metabolism disorder
enzyme deficiency
Arrieration mentale
purine/pyrimidine metabolism disorder
enzyme deficiency
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