Article
Intra-familiar discordant PKU phenotype explained by mutation analysis in three pedigrees.
Clinical biochemistry - 1 Feb 2014
Trunzo Roberta, Santacroce Rosa, D'Andrea Giovanna, Longo Vittoria, De Girolamo Giuseppe, Dimatteo Claudia, Leccese Angelica, Lillo Vincenza, Papadia Francesco, Margaglione Maurizio
Abstract excerpt
Classical phenylketonuria (PKU) and mild hyperphenylalaninemia (MHP) are two phenotypes of phenylalanine hydroxylase (PAH) deficiency with different degrees of severity. We have analyzed three families in which classical PKU, MHP and a normal phenotype occurred within each family due to the different combinations of three mutations segregating within the family. Indeed, sequence PAH analysis revealed three...
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