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White matter pathology in phenylketonuria.
Peter J Anderson1, Vincenzo Leuzzi
1Department of Psychology, The University of Melbourne, Melbourne, Vic. 3010, Australia. peterja@unimelb.edu.au
Molecular Genetics and Metabolism
|February 4, 2010
Summary
Early-treated phenylketonuria (PKU) can cause brain abnormalities, particularly in white matter. Strict dietary management may help reverse these changes and improve neurological outcomes.
Area of Science:
- Neuroscience
- Biochemistry
- Genetics
Background:
- Phenylketonuria (PKU) is an inherited metabolic disorder.
- Early-treated PKU patients often exhibit neuropsychological impairments.
- White matter pathology and dopamine depletion are proposed mechanisms for these impairments.
Purpose of the Study:
- To review histopathology and neuroimaging findings in PKU.
- To differentiate white matter pathology in untreated versus early-treated PKU.
- To explore the relationship between metabolic control and white matter abnormalities.
Main Methods:
- Review of histopathology studies.
- Analysis of neuroimaging studies, including MRI.
- Correlation of findings with metabolic control and dietary adherence.
Main Results:
- High-signal intensity in periventricular white matter is common in PKU patients.
- Untreated PKU shows hypomyelination; early-treated PKU shows intramyelinic edema.
- White matter pathology is linked to metabolic control and potentially reversible with a low-phenylalanine diet.
Conclusions:
- White matter abnormalities in PKU are associated with metabolic control.
- Dietary adherence can potentially reverse MRI-observed white matter pathology.
- Functional significance of white matter pathology is uncertain but may relate to frontal lobe involvement.
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