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Neurological Effects of Phenylketonuria (PKU)

Phenylketonuria (PKU) is a genetic disorder that leads to a reduction in myelin and causes abnormalities in the white matter of cortical and subcortical brain structures. Because the myelin sheath acts as an essential insulator for axons, its loss severely impairs normal neural operations. Consequently, this myelin reduction is associated with significant neurological issues, including severe cognitive deficits, exaggerated reflexes, and seizures.

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