[Genetic polymorphism in Gilbert-Meulengracht syndrome (GMS)].
N-Acetylation and debrisoquine hydroxylation phenotypes were determined in 54 patients with Gilbert's syndrome and in 247 (sulfamethazine) and 76 (debrisoquine) non-related healthy volunteers, respectively. 40 (74.1%) of the patients and 135 (54.7%) of healthy volunteers were slow acetylators (chi 2 = 6.87). In patients, the cumulative urinary excretion (CUE) of sulfamethazine (0-6 hours) was significantly reduced. No differences between the debrisoquine poor metabolizers were observed: Gilbert's syndrome 5/54 (9.3%), healthy volunteers 5/76 (6.6%). The metabolic ratios were similar in both groups as well as the CUE of debrisoquine and its metabolite. Gilbert's syndrome seems to be related in some way to N-acetylation but not to debrisoquine hydroxylation polymorphism.
D000107:Acetylation; D001191:Arylamine N-Acetyltransferase / Q000235:genetics; D019389:Cytochrome P-450 CYP2D6; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics; D003647:Debrisoquin / Q000493:pharmacokinetics; D005878:Gilbert Disease / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D006900:Hydroxylation; D008657:Metabolic Clearance Rate / Q000235:genetics; D006899:Mixed Function Oxygenases / Q000235:genetics; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics*; D013418:Sulfamethazine / Q000493:pharmacokinetics
D013418:Sulfamethazine; D003577:Cytochrome P-450 Enzyme System; D006899:Mixed Function Oxygenases; D019389:Cytochrome P-450 CYP2D6; D001191:Arylamine N-Acetyltransferase; D003647:Debrisoquin
Genetische Polymorphismen bei Gilbert-Meulengracht-Syndrom (GMS).