Diffusion-weighted MR imaging in patients with phenylketonuria: Relationship between serum phenylalanine levels and ADC values in cerebral white matter

PURPOSE: To prospectively determine the relationship between serum phenylalanine levels and apparent diffusion coefficient (ADC) values in the cerebral white matter of patients with phenylketonuria (PKU). MATERIALS AND METHODS: Institutional review board approval was obtained, and participants provided informed consent. Magnetic resonance (MR) imaging, which included T1- and T2-weighted, fluid-attenuated inversion-recovery (FLAIR), and diffusion-weighted examinations, was performed in 21 patients with PKU (nine male and 12 female patients; age range, 3-44 years; mean age, 19.4 years). ADC values in deep cerebral white matter were calculated for each patient. Serum phenylalanine levels were-obtained in all patients within 12 days after MR imaging. Serum phenylalanine levels were measured in 16 patients I year before MR imaging. ADC values in cerebral white matter and serum phenylalanine levels were compared. A total of 21 control subjects (12 male and nine female patients; age range, 3-33 years; mean age, 20.6 years) underwent MR imaging. ADC values in cerebral white matter were compared with serum phenylalanine levels by using the Pearson correlation. RESULTS: Abnormal high signal intensity in white matter on T2-weighted and FLAIR MR images was noted in patients with PKU who had serum phenylalanine levels of more than 8.5 mg/dL (514.2 mu mol/L). Diffusion in posterior deep cerebral white matter tended to be restricted in patients when increased serum phenylalanine levels were measured after MR imaging (r = -0.62). There was a correlation between ADC values in posterior cerebral white matter and serum phenylalanine levels measured I year before MR imaging (r = -0.77). ADCs of control subjects were significantly higher than ADCs of patients with PKU (P <.005). CONCLUSION: 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 mu mol/L).(c) RSNA, 2005