Diffusion Tensor Imaging Analysis with Tract-Based Spatial Statistics of the White Matter Abnormalities in Early-Treated Phenylketonuria

Huiling Peng¹, Amanda J. Moffitt¹, Dawn Peck¹, Desire A. White², Shawn E. Christ¹

Phenylketonuria (PKU) is a genetic condition characterized by an impaired ability to metabolize the amino acid phenylalanine into tyrosine, a precursor of dopamine and other neurotransmitters. The aim of this study was to investigate white matter fiber changes in individuals with early-treated PKU (ETPKU) by means of tract-based spatial statistics (TBSS) approach. Significant reductions of axial, radial, and mean diffusivity were detected in numerous white matter tracts of patients with ETPKU compared to normal controls. A negative correlation between age and mean value of all diffusivity of the whole brain white matter skeleton was also found within the ETPKU group.