A model for hyperphenylalaninaemia due to tetrahydrobiopterin deficiency.
A model for tetrahydrobiopterin deficiency in mice is described. Elevated levels of phenylalanine produced in the model were shown to be dramatically reduced after injection of tetrahydrobiopterin. A comparison of several reduced pterins for their efficacy in the system is described. The unnatural S isomer of tetrahydrobiopterin was shown to be active in the system.
D000818:Animals; D001708:Biopterins / Q000031:analogs & derivatives / Q000172:deficiency* / Q000378:metabolism / Q000494:pharmacology; D001921:Brain / Q000378:metabolism; D002395:Catecholamines / Q000378:metabolism; D004195:Disease Models, Animal; D004305:Dose-Response Relationship, Drug; D007042:Hypoxanthines / Q000494:pharmacology; D008099:Liver / Q000378:metabolism; D051379:Mice; D008807:Mice, Inbred BALB C; D010649:Phenylalanine / Q000097:blood*; D011621:Pteridines / Q000172:deficiency*
D002395:Catecholamines; D007042:Hypoxanthines; D011621:Pteridines; D001708:Biopterins; D010649:Phenylalanine; C017202:2,4-diaminohypoxanthine; C003402:sapropterin