MR in phenylketonuria-related brain lesions.

Purpose: Phenylketonuria (PKU) patients were examined by different MR techniques to explain the pathological changes observed in periventricular white brain matter using conventional MR imaging.

Material And Methods: Fifteen patients with treated classical PKU were examined by 1H spectroscopy, relaxometry and diffusion imaging on a whole-body 1.5-T MR imager.

Decreasing choline signal--a marker of phenylketonuria?

We found a statistically significant increase in the N-acetylaspartate/choline-containing compounds (NAA/Cho) ratio in a group of 69 phenylketonuria (PKU) patients with a rise in echo time (TE) compared with a group of 35 age-matched controls. The absolute concentration of creatine did not differ significantly between patients and controls, but a significant difference was found for choline-containing compounds (1.33 mM in patients vs.

Long-term follow-up of patients treated for phenylketonuria (PKU). Results from the Prague PKU Center.

In order to examine the association between treatment parameters and intellectual outcome, a total of 58 adolescents with phenylketonuria (PKU) treated at the PKU center of the Department of Pediatrics at the University of Prague were tested at the age of 15 years with the Prague Child Wechsler Test. Patients were classified into three groups with different levels of dietary control that remained relatively stable over time at mean phenylalanine levels of 360, 540 and 680 mumol/l. The mean level of phenylalanine was highly correlated with IQ and school education.

Proton in vivo spectroscopy of patients with hyperphenylalaninaemia.

Changes in MR images and 1H spectra of 20 patients with hyperphenylalaninaemia were compared with data of controls. Major changes in T2 MR images were found in the periventricular area (20/19). Some patients showed lesions in MR images of basal ganglia (20/7) and in the cerebellum (20/4).