Cognitive outcomes in early-treated adults with phenylketonuria (PKU): A comprehensive picture across domains.

ABSTRACT:

Objective

Phenylketonuria (PKU) is an inherited metabolic disease which affects cognitive functions due to an inability to metabolize phenylalanine which leads to the accumulation of toxic by-products (Phe) in the brain. PKU can be effectively treated with a low phenylalanine diet, but some cognitive deficits remain. Studies have reported impairments, especially for processing speed and executive functions, but there is a lack of comprehensive assessment across cognitive domains. Moreover, it is important to establish outcomes in early treated adults with PKU (AwPKU) who have better metabolic control than groups previously reported in the literature.

Method

We tested 37 AwPKU with an unprecedented number of tasks (N = 28) and measures (N = 44) and compared results with 30 co

SUBMITTER: Palermo L 

PROVIDER: S-EPMC5328133 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature