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- Review
- The time has come: a new scene for PKU treatment
- Luciana Lara dos Santos1, Myrian de Castro Magalhães1, José Nélio Januário2,
- Marcos José Burle de Aguiar2 and Maria Raquel Santos Carvalho1
- 1Departamento de Biologia Geral, Instituto de Ciências Biológicas,
- Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brasil
- 2NUPAD, Núcleo de Pesquisa em Apoio ao Diagnóstico, Faculdade de Medicina,
- Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brasil
- Corresponding author: M.R.S. Carvalho
- E-mail: [email protected]
- Genet. Mol. Res. 5 (1): 33-44 (2006)
- Received August 18, 2005
- Accepted January 24, 2006
- Published February 24, 2006
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
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