Diffusivity alterations related to cognitive performance and phenylalanine levels in early-treated adults with phenylketonuria.

ABSTRACT:

Background

Altered white matter (WM) is consistently reported in patients with phenylketonuria (PKU). However, the knowledge about WM microstructural integrity in early-treated adults with classical PKU and its relationship with cognition and metabolic parameters is inconclusive. This study aims to explore the cerebral WM microstructural alterations in adult patients with early-treated classical PKU and their association with blood phenylalanine (Phe) levels and neuropsychological performance using whole-brain diffusion tensor imaging (DTI).

Methods

Twenty-nine patients with early-treated classical PKU (mean age = 30.86, SD = 7.74) and 31 healthy controls (mean age = 32.45, SD = 9.40) underwent neuropsychological assessment and MRI. Phe dry blood spot (DBS-Phe) samples, alon

SUBMITTER: Pardo J 

PROVIDER: S-EPMC12220134 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature