Diffusion-weighted imaging of white matter abnormalities in patients with phenylketonuria. AJNR Am J Neuroradiol 2001 Sep;22(8):1583-6
Date
09/18/2001Pubmed ID
11559511Pubmed Central ID
PMC7974588Scopus ID
2-s2.0-0034821252 (requires institutional sign-in at Scopus site) 76 CitationsAbstract
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 BEAuthor
Vincent Mathews MD Chair, Professor in the Radiology department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdultBrain
Diffusion
Humans
Magnetic Resonance Imaging
Male
Phenylketonurias