title: Inherited disorders of purine metabolism--underlying molecular mechanisms.
abstract: An overview of inherited disorders of purine metabolism, concentrating on well established enzyme defects is given. Included are HPRT and the LNS, APRT and 2,8-dihydroxyadenine lithiasis, hyperactivity of PRPP synthetase, ADA and PNP and immunodeficiencies. Emphasis is put on underlying molecular mechanisms on the gene-, enzyme-, or metabolite level for a better understanding of the events leading from the genotype to the clinical phenotype. Finally some aspects of extracellular purine nucleotide metabolism catalyzed by cell surface-bound ectoenzymes are discussed.
mesh_terms: D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency / Q000235:genetics; D000243:Adenosine Deaminase / Q000172:deficiency; D006073:Gout / Q000201:enzymology / Q000235:genetics; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency / Q000235:genetics; D007926:Lesch-Nyhan Syndrome / Q000235:genetics; D008967:Molecular Biology; D009154:Mutation; D010754:Phosphoribosyl Pyrophosphate / Q000378:metabolism; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics*; D011687:Purines / Q000378:metabolism*; D012268:Ribose-Phosphate Pyrophosphokinase / Q000235:genetics; D014527:Uric Acid / Q000097:blood
chemical_list: D011687:Purines; D014527:Uric Acid; D010754:Phosphoribosyl Pyrophosphate; D011683:Purine-Nucleoside Phosphorylase; D000228:Adenine Phosphoribosyltransferase; D007041:Hypoxanthine Phosphoribosyltransferase; D012268:Ribose-Phosphate Pyrophosphokinase; D000243:Adenosine Deaminase; C030985:purine