Literature DB >> 1916459

Unexpected white matter changes in an early treated PKU case and improvement after dietary treatment.

S Battistini1, N De Stefano, S Parlanti, A Federico.   

Abstract

We report a case of classic phenylketonuria (PKU) treated by dietary restriction until the age of 5 years. At the age of 18 years, she developed anxious-depressive symptoms and deterioration of school performance. Neurophysiological investigations showed changes in VEPs and BAEPs and brain MRI showed white matter abnormalities. The return to a diet low in phenylalanine reduced psychiatric disturbances and reversed neurophysiological and MRI changes. Our data confirm previous observations of white matter involvement in PKU and the utility of lifelong dietary therapy to prevent neurological and/or psychiatric deterioration.

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Year:  1991        PMID： 1916459

Source DB:  PubMed          Journal:  Funct Neurol        ISSN： 0393-5264


  5 in total

1.  Phenylketonuria: white-matter changes assessed by 3.0-T magnetic resonance (MR) imaging, MR spectroscopy and MR diffusion.

Authors:  T Scarabino; T Popolizio; M Tosetti; D Montanaro; G M Giannatempo; R Terlizzi; S Pollice; A Maiorana; N Maggialetti; A Carriero; V Leuzzi; U Salvolini
Journal:  Radiol Med       Date:  2009-03-10       Impact factor: 3.469

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

Authors:  V Leuzzi; G Trasimeni; G F Gualdi; I Antonozzi
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

Review 3.  White matter abnormalities in patients with treated hyperphenylalaninaemia: magnetic resonance relaxometry and proton spectroscopy findings.

Authors:  U Bick; K Ullrich; U Stöber; H Möller; G Schuierer; A C Ludolph; C Oberwittler; J Weglage; U Wendel
Journal:  Eur J Pediatr       Date:  1993-12       Impact factor: 3.183

Review 4.  The complete European guidelines on phenylketonuria: diagnosis and treatment.

Authors:  A M J van Wegberg; A MacDonald; K Ahring; A Bélanger-Quintana; N Blau; A M Bosch; A Burlina; J Campistol; F Feillet; M Giżewska; S C Huijbregts; S Kearney; V Leuzzi; F Maillot; A C Muntau; M van Rijn; F Trefz; J H Walter; F J van Spronsen
Journal:  Orphanet J Rare Dis       Date:  2017-10-12       Impact factor: 4.123

5.  The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0 tesla MRI and magnetic resonance spectroscopy (1H MRS) study.

Authors:  V Leuzzi; M Tosetti; D Montanaro; C Carducci; C Artiola; C Carducci; I Antonozzi; M Burroni; F Carnevale; F Chiarotti; T Popolizio; G M Giannatempo; V D'Alesio; T Scarabino
Journal:  J Inherit Metab Dis       Date:  2007-01-23       Impact factor: 4.750
  5 in total

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