Abstract
Magnetic resonance imaging is the most efficient imaging modality to evaluate brain gray and white matter of patients with metabolic diseases [1, 2, 3]. The main purpose of out study was to investigate the relation between brain MRI abnormalities and the phenylalanine (phe) and tyrosine (tyr) blood levels in 38 phenylketonuria (PKU) patients. Increased periventricular white matter intensity on T2-weighted brain images was the only pahtologic finding in 24 patients. Brain MRI abnormalities were scored (4) and correlated with the individual mean phe and phe/ tyr levels during 1 year preceding MR examination and with phe tolerance. The appearance of MRI abnormalities on brain T2-weighted images correlates with a threshold mean phe level (averaged over the year preceding the examination).
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