PT  - JOURNAL ARTICLE
AU  - Micheal D. Phillips
AU  - Peter McGraw
AU  - Mark J. Lowe
AU  - Vincent P. Mathews
AU  - Bryan E. Hainline
TI  - Diffusion-Weighted Imaging of White Matter Abnormalities in Patients with Phenylketonuria
DP  - 2001 Sep 01
TA  - American Journal of Neuroradiology
PG  - 1583--1586
VI  - 22
IP  - 8
4099  - http://www.ajnr.org/content/22/8/1583.short
4100  - http://www.ajnr.org/content/22/8/1583.full
SO  - Am. J. Neuroradiol.2001 Sep 01; 22
AB  - 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.