Document Detail


Diffusion-weighted imaging of white matter abnormalities in patients with phenylketonuria.
MedLine Citation:
PMID:  11559511     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
M D Phillips; P McGraw; M J Lowe; V P Mathews; B E Hainline
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  AJNR. American journal of neuroradiology     Volume:  22     ISSN:  0195-6108     ISO Abbreviation:  AJNR Am J Neuroradiol     Publication Date:  2001 Sep 
Date Detail:
Created Date:  2001-09-17     Completed Date:  2001-10-25     Revised Date:  2008-02-14    
Medline Journal Info:
Nlm Unique ID:  8003708     Medline TA:  AJNR Am J Neuroradiol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1583-6     Citation Subset:  IM    
Affiliation:
Department of Radiology, Indiana University School of Medicine, Indianapolis 46202-5111, USA.
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MeSH Terms
Descriptor/Qualifier:
Adult
Brain / pathology*
Diffusion
Humans
Magnetic Resonance Imaging / methods*
Male
Phenylketonurias / diagnosis*

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