title: Phenylketonuria and other phenylalanine hydroxylation mutants in man.
mesh_terms: D000483:Alleles; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D000818:Animals; D001708:Biopterins / Q000031:analogs & derivatives / Q000096:biosynthesis / Q000235:genetics; D004093:Dihydropteridine Reductase / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000209:etiology; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D006579:Heterozygote; D006801:Humans; D006900:Hydroxylation; D010649:Phenylalanine / Q000378:metabolism; D010651:Phenylalanine Hydroxylase / Q000172:deficiency / Q000235:genetics; D010661:Phenylketonurias / Q000178:diet therapy / Q000235:genetics*; D011247:Pregnancy; D011248:Pregnancy Complications; D051381:Rats
chemical_list: D001708:Biopterins; D010649:Phenylalanine; C017226:7,8-dihydrobiopterin; D010651:Phenylalanine Hydroxylase; D004093:Dihydropteridine Reductase; C003402:sapropterin