Title |
Age-Related Psychophysiological Vulnerability to Phenylalanine in Phenylketonuria
|
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Published in |
Frontiers in Pediatrics, June 2014
|
DOI | 10.3389/fped.2014.00057 |
Pubmed ID | |
Authors |
Vincenzo Leuzzi, Daniela Mannarelli, Filippo Manti, Caterina Pauletti, Nicoletta Locuratolo, Carla Carducci, Claudia Carducci, Nicola Vanacore, Francesco Fattapposta |
Abstract |
Phenylketonuria (PKU) is caused by the inherited defect of the phenylalanine hydroxylase enzyme, which converts phenylalanine (Phe) into tyrosine (Tyr). Neonatal screening programs and early treatment have radically changed the natural history of PKU. Nevertheless, an increased risk of neurocognitive and psychiatric problems in adulthood remains a challenging aspect of the disease. In order to assess the vulnerability of complex skills to Phe, we explored: (a) the effect of a rapid increase in blood Phe levels on event-related potentials (ERP) in PKU subjects during their second decade of life; (b) the association (if existing) between psychophysiological and neurocognitive features. |
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