title: Phenylketonuria: epitome of human biochemical genetics (first of two parts).
mesh_terms: D000818:Animals; D001708:Biopterins / Q000031:analogs & derivatives / Q000378:metabolism; D001921:Brain / Q000378:metabolism; D002874:Chromosome Mapping; D005260:Female; D006706:Homeostasis; D006801:Humans; D008607:Intellectual Disability / Q000378:metabolism / Q000517:prevention & control; D008099:Liver / Q000378:metabolism; D009154:Mutation; D009185:Myelin Proteins / Q000378:metabolism; D010641:Phenotype; D010649:Phenylalanine / Q000378:metabolism; D010651:Phenylalanine Hydroxylase / Q000172:deficiency / Q000378:metabolism; D010661:Phenylketonurias / Q000235:genetics* / Q000378:metabolism / Q000628:therapy; D011247:Pregnancy
chemical_list: D009185:Myelin Proteins; D001708:Biopterins; D010649:Phenylalanine; D010651:Phenylalanine Hydroxylase; C003402:sapropterin