White matter pathology in phenylketonuria

PJ Anderson, V Leuzzi - Molecular genetics and metabolism, 2010 - Elsevier
Early-treated phenylketonuria (PKU) is associated with a range of neuropsychological
impairments. Proposed mechanisms for these impairments include dopamine depletion and
white matter pathology. Neuroimaging studies demonstrate high-signal intensity in the
periventricular white matter in most PKU patients, which can extend into subcortical and
frontal regions in more severe cases. A review of histopathology and neuroimaging studies
reveals that diffuse white matter pathology in untreated PKU patients is likely to reflect …