Transient brain structure changes after high phenylalanine exposure in adults with phenylketonuria.

ABSTRACT: Phenylketonuria is a rare metabolic disease resulting from a deficiency of the enzyme phenylalanine hydroxylase. Recent cross-sectional evidence suggests that early-treated adults with phenylketonuria exhibit alterations in cortical grey matter compared to healthy peers. However, the effects of high phenylalanine exposure on brain structure in adulthood need to be further elucidated. In this double-blind, randomized, placebo-controlled crossover trial, we investigated the impact of a 4-week high phenylalanine exposure on the brain structure and its relationship to cognitive performance and metabolic parameters in early-treated adults with phenylketonuria. Twenty-eight adult patients with early-treated classical phenylketonuria (19-48 years) underwent magnetic resonance imaging before and a

SUBMITTER: Muri R 

PROVIDER: S-EPMC11604053 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature