A neuropsychological profile of off-diet adults with phenylketonuria

Abstract

The metabolic disorder phenylketonuria (PKU) is treated early by a low-phenylalanine diet. While this prevents global cognitive impairment, some patients still experience cognitive and neurophysiological abnormalities. Neuropsychological testing of early treated, currently off-diet, PKU patients attending an adult PKU clinic showed a reduction in the Perceptual Organization Index (POI), Processing Speed Index (PSI) from the Wechsler Adult Intelligence Scale Third Edition (WAIS-III), and Part A of the Trail Making Test for the PKU group relative to controls. Taken together, these results supported a profile of reduced information-processing speed.