Cerebral blood flow and white matter alterations in adults with phenylketonuria.

ABSTRACT:

Background

Phenylketonuria (PKU) represents a congenital metabolic defect that disrupts the process of converting phenylalanine (Phe) into tyrosine. Earlier investigations have revealed diminished cognitive performance and changes in brain structure and function (including the presence of white matter lesions) among individuals affected by PKU. However, there exists limited understanding regarding cerebral blood flow (CBF) and its potential associations with cognition, white matter lesions, and metabolic parameters in patients with PKU, which we therefore aimed to investigate in this study.

Method

Arterial spin labeling perfusion MRI was performed to measure CBF in 30 adults with early-treated classical PKU (median age 35.5 years) and 59 healthy controls (median age 30.0 yea

SUBMITTER: Steiner L 

PROVIDER: S-EPMC10716784 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature