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AJNR - American Journal of Neuroradiology

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American Journal of Neuroradiology 22:1583-1586 (9 2001)
© 2001 American Society of Neuroradiology

ARTICLE

Diffusion-Weighted Imaging of White Matter Abnormalities in Patients with Phenylketonuria

Micheal D. Phillips^a, Peter McGraw^a, Mark J. Lowe^a, Vincent P. Mathews^a and Bryan E. Hainline^a

^a From the Departments of Radiology (M.D.P., P.M., M.J.L., V.P.M.) and Pediatrics (B.E.H.), Indiana University School of Medicine, Indianapolis.

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.

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