Abstract

VILARINHO, Laura et al. Phenylketonuria revisited. Arq Med [online]. 2006, vol.20, n.5-6, pp.161-172. ISSN 2183-2447.

PKU, the most common amino acid disorder in the Caucasian population, became the paradigma of an easily diagnosed disease by neonatal screening. Early treatment prevents neurological damage and severe mental retardation. In Portugal, until the end of 2005, 2,481,988 newborns were screened for by the National Neonatal Screening Program and 226 PKU patients identified, displaying a prevalence of 1/11,031. One-hundred and three patients, corresponding to 196 independent alleles, were fully genotyped. Among the 29 different mutations identified, IVS10nt-11G→A revealed to be the most frequent one (17.3%). These results demonstrate that, as expected, PKU is a highly heterogeneous disease at the molecular level.

Keywords : PKU; phenylketonuria; neonatal screening; newborn screening program.

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