title: Genetic defects in human purine and pyrimidine metabolism.
mesh_terms: D015720:5'-Nucleotidase; D000659:AMP Deaminase; D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency; D000243:Adenosine Deaminase / Q000172:deficiency; D000582:Amidophosphoribosyltransferase / Q000235:genetics; D005796:Genes; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency; D007926:Lesch-Nyhan Syndrome / Q000235:genetics; D009708:Nucleotidases / Q000172:deficiency / Q000235:genetics; D009963:Orotic Acid / Q000652:urine; D050862:Oxidoreductases Acting on Sulfur Group Donors / Q000172:deficiency; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000235:genetics*; D011687:Purines / Q000378:metabolism*; D011743:Pyrimidines / Q000378:metabolism*; D014969:Xanthine Oxidase / Q000172:deficiency
chemical_list: D011687:Purines; D011743:Pyrimidines; D009963:Orotic Acid; D014969:Xanthine Oxidase; D050862:Oxidoreductases Acting on Sulfur Group Donors; D011683:Purine-Nucleoside Phosphorylase; D000582:Amidophosphoribosyltransferase; D000228:Adenine Phosphoribosyltransferase; D007041:Hypoxanthine Phosphoribosyltransferase; D009708:Nucleotidases; D015720:5'-Nucleotidase; D000243:Adenosine Deaminase; D000659:AMP Deaminase