Adult cognitive outcomes in phenylketonuria: explaining causes of variability beyond average Phe levels.

ABSTRACT: OBJECTIVE:The objective was to deepen the understanding of the causes of individual variability in phenylketonuria (PKU) by investigating which metabolic variables are most important for predicting cognitive outcomes (Phe average vs Phe variation) and by assessing the risk of cognitive impairment associated with adopting a more relaxed approach to the diet than is currently recommended. METHOD:We analysed associations between metabolic and cognitive measures in a mixed sample of English and Italian early-treated adults with PKU (N = 56). Metabolic measures were collected through childhood, adolescence and adulthood; cognitive measures were collected in adulthood. Metabolic measures included average Phe levels (average of median values for each year in a given period) and average Phe variat

SUBMITTER: Romani C 

PROVIDER: S-EPMC6883518 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature