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RT Journal Article
SR Electronic
T1 Diffusion-Weighted Imaging of White Matter Abnormalities in Patients with Phenylketonuria
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 1583
OP 1586
VO 22
IS 8
A1 Phillips, Micheal D.
A1 McGraw, Peter
A1 Lowe, Mark J.
A1 Mathews, Vincent P.
A1 Hainline, Bryan E.
YR 2001
UL http://www.ajnr.org/content/22/8/1583.abstract
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.