Neurological images in phenylketonuria (PKU)

Abstract

Phenylketonuria is an inborn error of metabolism that causes structural abnormalities in the white matter of the brain. In untreated patients demyelization can be observed, and there is evidence of intramyelin edema even in some treated patients. Imaging studies especially magnetic resonance imaging are useful for the study of patients with phenylketonuria, but their benefit as monitoring tools is controversial.

Keywords

• Fenilcetonuria
• PKU
• resonancia magnética nuclear
• sustancia blanca cerebral
• intramielina