Phenylketonuria (PKU) is an autosomal recessive disorder caused by a deficiency of the enzyme phenylalanine hydroxylase (EC 188.8.131.52). Affected patients develop elevated plasma and tissue levels of phenylalanine and its related ketoacids. Untreated patients usually exhibit severe mental retardation and poor motor function, with characteristic T2 white matter signal abnormalities on conventional MR images. In the present study, we performed diffusion-weighted imaging in three PKU patients. All three patients demonstrated significantly restricted diffusion in all white matter areas examined.
|Original language||English (US)|
|Number of pages||4|
|Journal||American Journal of Neuroradiology|
|State||Published - Sep 27 2001|
ASJC Scopus subject areas
- Radiology Nuclear Medicine and imaging
- Clinical Neurology