RESUMEN

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.

Asunto(s)

Humanos , Alimentos Formulados , Dieta con Restricción de Proteínas/métodos , Fenilalanina Hidroxilasa , Fenilcetonurias/dietoterapia , Alimentos/normas , Aminoácidos/administración & dosificación , Fenilalanina/administración & dosificación , Fenilcetonurias/genética , Fenotipo , Gusto , Terapia Genética/métodos