Newborn screening and early treatment prevent the most severe manifestations of phenylketonuria (PKU). However, executive functioning deficits, attention deficit disorder, slow processing speed, and visual-motor problems commonly occur. Many adults with this disorder also suffer depression and anxiety. Using advanced electroencephalogram (EEG) and magnetic resonance imaging (MRI) techniques, including novel MR spectroscopy (MRS) we hope to discover why this distinct constellation of deficits occurs in PKU. Adult subjects with PKU will undergo EEG and comprehensive MRI evaluations, including a novel method of MR spectroscopy to determine brain phenylalanine levels. In addition, they will receive neurological and neuropsychological examinations and dietary evaluation.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Enrollment
10
Boston Children's Hospital
Boston, Massachusetts, United States
Phenylalanine Level in the Brain as Determined by MR Spectroscopy and in Blood
Brain Phe levels (umol/L) using MRI correlated spectroscopy and Blood Phe levels (umol/L) obtained on the same day.
Time frame: During period of evaluation, approximately 8 hours
Full Scale Intelligence Quotient (IQ)
Time frame: During period of evaluation, approximately 8 hours
Electroencephalogram (EEG) Findings
Time frame: During period of evaluation, approximately 8 hours
Volumetric MRI Findings
Time frame: During period of evaluation, approximately 8 hours
Diffusion Tensor Imaging (DTI) Findings Through MRI
Time frame: During period of evaluation, approximately 8 hours
Tremor as Determined Through Neurological Evaluation
Time frame: During period of evaluation, approximately 8 hours
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