The time has come: a new scene for PKU treatment.
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.
Santos
Luciana Lara dos
LL
Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.
Magalhães
Myrian de Castro
Mde C
Januário
José Nélio
JN
Aguiar
Marcos José Burle de
MJ
Carvalho
Maria Raquel Santos
MR
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
D000596:Amino Acids; D010649:Phenylalanine; D010651:Phenylalanine Hydroxylase