Proceedings: Atypical phenylketonuria accompanied by a severe progressive neurological illness unresponsive to dietary treatment.
D001706:Biopsy; D004035:Diet Therapy; D006801:Humans; D008099:Liver / Q000201:enzymology; D009069:Movement Disorders; D009422:Nervous System Diseases / Q000150:complications*; D010649:Phenylalanine / Q000097:blood / Q000378:metabolism; D010651:Phenylalanine Hydroxylase / Q000378:metabolism; D010661:Phenylketonurias / Q000150:complications* / Q000378:metabolism / Q000628:therapy; D012919:Social Behavior
D010649:Phenylalanine; D010651:Phenylalanine Hydroxylase