title: IMP dehydrogenase mutants: cell culture model for hyperuricemia.
abstract: These studies with wild-type and mutant cells defective in IMP dehydrogenase and the previous data with the adenylosuccinate synthetase-deficient cell line suggest that among the clinical population with dominantly inherited hyperuricemia, patients with partial deficiencies in these enzymes exist. It is hoped that these pharmacogenetic cell culture models for overproduction hyperuricemia will lead to the initiation of a search for hyperuricemia patients with either of these deficiencies. If such patients are found it may be possible to design chemotherapeutic regimens by which effectors (inhibitors) of purine synthesis might ameliorate the overproduction of purines by the de novo pathway.
mesh_terms: D000818:Animals; D002460:Cell Line; D004195:Disease Models, Animal; D006073:Gout / Q000378:metabolism*; D006801:Humans; D007168:IMP Dehydrogenase / Q000172:deficiency*; D007658:Ketone Oxidoreductases / Q000172:deficiency*; D008223:Lymphoma / Q000378:metabolism*; D051379:Mice; D009154:Mutation; D009173:Mycophenolic Acid / Q000494:pharmacology; D012265:Ribonucleotides / Q000378:metabolism*; D014527:Uric Acid / Q000378:metabolism*
chemical_list: D012265:Ribonucleotides; D014527:Uric Acid; D007168:IMP Dehydrogenase; D007658:Ketone Oxidoreductases; D009173:Mycophenolic Acid