Age-related psychophysiological vulnerability to phenylalanine in phenylketonuria.

ABSTRACT:

Background

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.

Methods

Seventeen early-treated PKU subjects, aged 10-20, underwent ERP [mismatch

SUBMITTER: Leuzzi V 

PROVIDER: S-EPMC4066367 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature