Biochemical, clinical and neuroradiological (MRI) correlations in late-detected PKU patients

  title={Biochemical, clinical and neuroradiological (MRI) correlations in late-detected PKU patients},
  author={Vincenzo Leuzzi and Guido Trasimeni and Gualtiero Gualdi and Italo Antonozzi},
  journal={Journal of Inherited Metabolic Disease},
Brain magnetic resonance imaging (MRI) was performed in 17 late-detected PKU patients (aged 2.8–25 years). Twelve subjects had been treated late (0.7–4.5 years), and 5 not at all. Four were still on diet when the study was performed. Mental development was normal in 4 subjects, mildly retarded in 6, and moderately or severely retarded in 7. None had exhibited mental or neurological deterioration. On MRI examination a symmetrical increase of T2-weighted signal in the periventricular white matter… CONTINUE READING


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