Megaloblastic anemia and orotic aciduria. A hereditary disorder of pyrimidine metabolism responsive to uridine.
D000748:Anemia, Macrocytic / Q000150:complications*; D001856:Bone Marrow Examination; D006128:Growth; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D009963:Orotic Acid / Q000652:urine*; D011241:Prednisone / Q000627:therapeutic use; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000150:complications* / Q000188:drug therapy; D014529:Uridine / Q000627:therapeutic use*
D009963:Orotic Acid; D011241:Prednisone; D014529:Uridine