Phenylketonuria and its variants.
D001708:Biopterins / Q000031:analogs & derivatives / Q000096:biosynthesis; D003937:Diagnosis, Differential; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D006801:Humans; D007231:Infant, Newborn; D007700:Kinetics; D008099:Liver / Q000378:metabolism; D010649:Phenylalanine / Q000097:blood; D010651:Phenylalanine Hydroxylase / Q000235:genetics / Q000378:metabolism; D010661:Phenylketonurias / Q000235:genetics / Q000378:metabolism* / Q000628:therapy
D001708:Biopterins; D010649:Phenylalanine; D010651:Phenylalanine Hydroxylase; C003402:sapropterin