Erik Boot

Phenylketonuria: dopamine transmission and relationship with phenylalanine levels and cognitive performance in adults – a pilot study

Phenylketonuria, a rare genetic metabolic disorder, is associated with cognitive deficits and impaired dopamine (DA) synthesis. In this pilot study, we will investigate whether treatment (dietary restriction of phenylalanine (Phe)) influences brain Phe concentrations (MR spectroscopy measurement) and DA receptor binding (SPECT measurement).