title: [Properties of hypoxanthineguanine-phosphoribosyltransferase (HGPRTase) in a gout patient with partial deficiency of this enzyme (author's transl)].
abstract: Some physicochemical properties of HGPRTase were studied in hemolysates and fibroblasts of a gout patient with partial deficiency of this enzyme. In comparison to normal HGPRTase the mutant enzyme from erythrocytes was found to have an elevated apparent Km-value for hypoxanthine and guanine and a lower Km-value for PRPP. The patient's enzyme from erythrocytes is more stable at +4 degrees C and +80 degrees C, the enzyme from fibroblasts more labile than that of controls. The inhibition of the mutant enzyme by some purine nucleosides and -nucleotides differed from that found in controls. No evidence was shown for an inhibitor of the patient's HGPRTase from erythrocytes. Ultracentrifugation of hemolysate in a saccharose gradient revealed no difference in the sedimentation coefficient.
mesh_terms: D000228:Adenine Phosphoribosyltransferase / Q000378:metabolism; D004912:Erythrocytes / Q000201:enzymology; D005347:Fibroblasts / Q000201:enzymology; D006073:Gout / Q000201:enzymology*; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000037:antagonists & inhibitors / Q000172:deficiency* / Q000378:metabolism; D009964:Orotidine-5'-Phosphate Decarboxylase / Q000378:metabolism; D011684:Purine Nucleosides / Q000494:pharmacology; D011685:Purine Nucleotides / Q000494:pharmacology; D013696:Temperature
chemical_list: D011684:Purine Nucleosides; D011685:Purine Nucleotides; D000228:Adenine Phosphoribosyltransferase; D007041:Hypoxanthine Phosphoribosyltransferase; D009964:Orotidine-5'-Phosphate Decarboxylase
vernacular_title: Eigenschaften der Hypoxanthinguaninphosphoribosyltransferase (HGPRTase) bei einem Gichtpatienten mit verminderter Aktivität dieses Enzyms.