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Diffusion-Weighted Imaging of White Matter Abnormalities in Patients with Phenylketonuria AJNR 22:1583-1586, Phillips,M.D.,et al, 2001 See this aricle in Pubmed Article 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.

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(click to filter results - removes previous filter) aminoacidopathies children hypopigmentation of skin inborn errors of metabolism leukoencephalopathy mental retardation MRI MRI,abnormal MRI,diffusion weighted MRI,FLAIR phenylketonuria phenylketonuria,adult onset white matter disease

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