title: New approaches to the treatment of phenylketonuria.
abstract: Phenylketonuria (PKU) is the most common of all aminoacidopathies and is caused by autosomal recessive deficiency of the hepatic phenylalanine hydroxylase system. The diagnosis of PKU should be multifactorial and based on a protein overload test that reveals increased plasma phenylalanine levels during the ingestion of a normal diet, a phenylalanine tolerance test, and in vitro and in vivo activity of the liver enzyme. An individualized diagnosis that characterizes the severity of the disease in each patient provides objective and effective criteria for the dietary treatment of each particular case.
authors: Departamento de Ciências Farmacêuticas, Faculdade de Ciências Farmacêuticas de Ribeirão Preto, Brazil.
authors: O
authors: O
authors: de Freitas
authors: C
authors: C
authors: Izumi
authors: M G
authors: MG
authors: Lara
authors: L J
authors: LJ
authors: Greene
mesh_terms: D000818:Animals; D004032:Diet; D005260:Female; D006801:Humans; D008099:Liver / Q000201:enzymology; D010649:Phenylalanine / Q000097:blood; D010651:Phenylalanine Hydroxylase / Q000172:deficiency; D010661:Phenylketonurias / Q000175:diagnosis / Q000201:enzymology / Q000628:therapy*; D011247:Pregnancy
chemical_list: D010649:Phenylalanine; D010651:Phenylalanine Hydroxylase