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Diffusion-weighted imaging of white matter abnormalities in patients with phenylketonuria. AJNR Am J Neuroradiol 2001 Sep;22(8):1583-6

Date

09/18/2001

Pubmed ID

11559511

Pubmed Central ID

PMC7974588

Scopus ID

2-s2.0-0034821252 (requires institutional sign-in at Scopus site)   76 Citations

Abstract

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.

Author List

Phillips MD, McGraw P, Lowe MJ, Mathews VP, Hainline BE

Author

Vincent Mathews MD Chair, Professor in the Radiology department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Adult
Brain
Diffusion
Humans
Magnetic Resonance Imaging
Male
Phenylketonurias