Author(s)

Laura Vilarinho, Sofia Esteves, Elisabete Ramos, António Amorim, Luisa Azevedo

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Phenylketonuria (PKU, MIM 261600) is the most common inborn error of amino acid metabolism. To date, a total of more than 500 mutations have been associated with the disease. In this report, the novel p.Glu182Lys mutation, found in a Portuguese family in combination with the previously reported p.Leu 348Val, is presented and its putative deleterious impact discussed.

Phenylketonuria (PKU); Phenylalanine Hydroxylase; PAH Gene; Novel Mutation

Vilarinho, L. , Esteves, S. , Ramos, E. , Amorim, A. and Azevedo, L. (2011) PAH mutational spectrum: still expanding. Open Journal of Genetics, 1, 9-12. doi: 10.4236/ojgen.2011.12002.