Diffusion-weighted MR Imaging in Patients with Phenylketonuria: Relationship between Serum Phenylalanine Levels and ADC Values in Cerebral White Matter

Abstract

Posterior deep white matter in patients with PKU and a serum phenylalanine level of more than 8.5 mg/dL showed high signal intensity in white matter on T2-weighted and FLAIR MR images and revealed decreased ADC. We suggest that to avoid brain-restricted diffusion due to hyperphenylalanemia, patients with PKU should maintain serum phenylalanine levels of less than 8.5 mg/dL (514.2 micromol/L).