title: The time has come: a new scene for PKU treatment.
abstract: Phenylketonuria (PKU) is one of the few genetic diseases in which mental retardation can be prevented. Hence, diagnosis and treatment must be established early. PKU treatment consists of a phenylalanine-restricted diet supplemented with a phenylalanine-free mixture of amino acids. However, it is difficult to adhere to this diet. In the last decade, a better comprehension of the biochemistry, genetics and molecular basis of the disease, as well as the need for easier treatment, led to the development of several new therapeutic strategies for PKU. In the present study, we evaluated these new therapeutic options in terms of theoretical basis, methodologies, efficacy, and costs.
authors.affiliation: Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.
authors.forename: Luciana Lara dos
authors.initials: LL
authors.lastname: Santos
authors.forename: Myrian de Castro
authors.initials: Mde C
authors.lastname: Magalhães
authors.forename: José Nélio
authors.initials: JN
authors.lastname: Januário
authors.forename: Marcos José Burle de
authors.initials: MJ
authors.lastname: Aguiar
authors.forename: Maria Raquel Santos
authors.initials: MR
authors.lastname: Carvalho
mesh_terms: D000596:Amino Acids / Q000008:administration & dosage; D018753:Diet, Protein-Restricted / Q000379:methods*; D005502:Food / Q000592:standards; D005526:Food, Formulated; D015316:Genetic Therapy / Q000379:methods; D006801:Humans; D010641:Phenotype; D010649:Phenylalanine / Q000008:administration & dosage; D010651:Phenylalanine Hydroxylase; D010661:Phenylketonurias / Q000178:diet therapy* / Q000235:genetics; D013649:Taste
chemical_list: D000596:Amino Acids; D010649:Phenylalanine; D010651:Phenylalanine Hydroxylase