Luciana Lara dos Santos, Myrian de Castro Magalhães, José Nélio Januário, Marcos José Burle de Aguiar, Maria Raquel Santos Carvalho
Published: February 24, 2006
Genet. Mol. Res. 5 (1) : 33-44
Cite this Article:
L.Lara dos Santos, Mde Castro Magalhães, J.Nélio Januário, M.José Burl de Aguiar, M.Raquel San Carvalho (2006). The time has come: a new scene for PKU treatment. Genet. Mol. Res. 5(1): 33-44.
About the Authors
Luciana Lara dos Santos, Myrian de Castro Magalhães, José Nélio Januário, Marcos José Burle de Aguiar, Maria Raquel Santos Carvalho
Corresponding author
M.R.S. Carvalho
E-mail: mraquel@icb.ufmg.br
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.
Key words: Phenylketonuria, PKU treatment, Therapeutic strategies, Phenylalanine ammonia-lyase, Large neutral amino acids, Gene therapy, Tetrahydrobiopterin.