TY - JOUR T1 - Diffusion-Weighted Imaging of White Matter Abnormalities in Patients with Phenylketonuria JF - American Journal of Neuroradiology JO - Am. J. Neuroradiol. SP - 1583 LP - 1586 VL - 22 IS - 8 AU - Micheal D. Phillips AU - Peter McGraw AU - Mark J. Lowe AU - Vincent P. Mathews AU - Bryan E. Hainline Y1 - 2001/09/01 UR - http://www.ajnr.org/content/22/8/1583.abstract N2 - Summary: Phenylketonuria (PKU) is an autosomal recessive disorder caused by a deficiency of the enzyme phenylalanine hydroxylase (EC 1.14.16.1). 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. ER -