In this study of cranial MRI a group of 15 adolescents with classical phenylketonuria
and permanent blood phenylalanine (phe) checks from infancy was investigated twice
with an interval of three years in between. Cranial MRI revealed a progression of
white matter abnormalities in patients with moderate and poor control of blood phe
levels, however not in well controlled patients. Nevertheless results indicate an
individual vulnerability of the brain against elevated phenylalanine levels in phenylketonurics.
Phenylketonuria - Cranial MRI
