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Radiology. 1996 Nov;201(2):413-20.

Phenylketonuria: findings at MR imaging and localized in vivo H-1 MR spectroscopy of the brain in patients with early treatment.

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Department of Pediatric Neurology, University of Heidelberg, Germany.



To characterize white matter changes in early-treated phenylketonuria (PKU) with magnetic resonance (MR) imaging and hydrogen-1 MR spectroscopy and to correlate these findings to biochemical control and brain function.


Fifty-one patients aged 12-33 years underwent T1-, T2-, and proton-density-weighted MR imaging and testing of intelligence, visual evoked potentials (VEPs), and neuropsychologic status (29 adult patients only). H-1 MR spectroscopy was performed in eight patients to determine brain metabolite concentrations, including phenylalanine (PHE) concentration, and brain compartmentation.


MR imaging revealed a high frequency of supra- and infratentorial abnormalities. MR imaging grade, which was based on areas of high signal intensity on T2-weighted images, showed statistically significant correlation with long-term biochemical control and neuropsychologic test results but not with intelligence quotient or VEPs. H-1 MR spectroscopy revealed normal metabolite levels, except for increased PHE levels. It also showed enlarged cerebrospinal fluid-like compartments in affected white matter, related to plasma and brain concentrations of PHE and MR imaging grades.


A synergistic use of MR imaging and MR spectroscopy may help elucidate both the pathogenesis of brain dysfunction and clinical treatment policies in PKU.

[Indexed for MEDLINE]

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