Diffusion kurtosis MRI (DKI) was used to measure changes in white matter structure in 20 patients with phenylketonuria and 43 controls. We found significant differences primarily in the periventricular parietal white matter in various DKI metrics. These scores were related to phenylalanine levels measured in the 3 years prior to MRI and with Scheltens score, reflecting white matter hyperintensities. DKI may be sensitive to pathology invisible to clinical MRI, and we propose a simple metric in the parietal lobe which robustly captures this effect.
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