The Brain, Neurological Features and Neuropsychological Functioning in Adults With Phenylketonuria: A Pilot Study

The Brain, Neurological Features and Neuropsychological Functioning in Adults With Phenylketonuria: A Pilot Study

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.

Inclusion Criteria:

1. Adult with classic PKU who has been seen at one of the hospitals collaborating in this study

2. Age 18-55 years

3. Medical Records available that include genotype and blood phenylalanine levels during the first 6 years of life. (We have over 300 patients with PKU with genotypes in our clinic, of whom about half are adults.)

4. Capable of providing informed consent

5. Able to undergo MRI procedures without sedating medication

6. Does not have metal implants

7. Not currently on Kuvan, Large Neutral Amino Acid therapy or involved in any clinical trials.

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Exclusion Criteria:

1. Mild PKU or mild hyperphenylalaninemia

2. Less than 18 years old or great than 55 years old

3. No medical records available for the first 6 years of life

4. No record of genotype

5. Not capable of providing informed consent

6. Not able to undergo MRI without sedating medication

7. Has metal implants

8. Currently taking Kuvan, Large Neutral Amino Acid therapy or involved in any clinical trial

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