title: Metabolic basis for disorders of purine nucleotide degradation.
abstract: Purine nucleotide degradation refers to a regulated series of reactions by which human purine ribonucleotides and deoxyribonucleotides are degraded to uric acid in humans. Two major types of disorders occur in this pathway. A block of degradation occurs with syndromes involving immune deficiency, myopathy or renal calculi. Increased degradation of nucleotides occurs with syndromes characterized by hyperuricemia and gout, renal calculi, anemia or acute hypoxia. Management of disorders of purine nucleotide degradation is dependent upon modifying the specific molecular pathology underlying each disease state.
mesh_terms: D000659:AMP Deaminase / Q000172:deficiency; D000243:Adenosine Deaminase / Q000172:deficiency / Q000378:metabolism; D000249:Adenosine Monophosphate / Q000378:metabolism; D000255:Adenosine Triphosphate / Q000378:metabolism; D000740:Anemia / Q000378:metabolism; D000818:Animals; D003854:Deoxyribonucleotides / Q000378:metabolism; D005260:Female; D006073:Gout / Q000378:metabolism; D006801:Humans; D000860:Hypoxia / Q000378:metabolism; D008297:Male; D009708:Nucleotidases / Q000172:deficiency / Q000378:metabolism; D010766:Phosphorylation; D011685:Purine Nucleotides / Q000378:metabolism*; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000276:immunology / Q000378:metabolism*; D011687:Purines / Q000378:metabolism; D012265:Ribonucleotides / Q000378:metabolism; D014527:Uric Acid / Q000378:metabolism; D014545:Urinary Calculi / Q000378:metabolism; D014969:Xanthine Oxidase / Q000172:deficiency
chemical_list: D003854:Deoxyribonucleotides; D011685:Purine Nucleotides; D011687:Purines; D012265:Ribonucleotides; D014527:Uric Acid; D000249:Adenosine Monophosphate; D000255:Adenosine Triphosphate; D014969:Xanthine Oxidase; D011683:Purine-Nucleoside Phosphorylase; D009708:Nucleotidases; D000243:Adenosine Deaminase; D000659:AMP Deaminase