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Improved Measurementof BrainPhenylalanine andTyrosine Related toNeuropsychologicalFunctioning inPhenylketonuria Susan E. WaisbrenSanjay P. PrabhuPatricia Greenstein2016 год

Improved Measurement of Brain Phenylalanine and Tyrosine Related to Neuropsychological Functioning in Phenylketonuria
статья

Страница публикацииПубликация в OpenAlex
Аннотация: Introduction: Researchers hypothesized that in phenylketonuria (PKU) high brain phenylalanine (Phe) levels and low brain tyrosine (Tyr) levels affect neuropsychological functioning. However, traditional magnetic resonance spectroscopy (MRS) yielded uncertain results of brain Phe and could not adequately measure brain Tyr. This pilot study examined the potential of correlated spectroscopy (COSY) to quantify these biomarkers and explain variability in neuropsychological functioning. Methods: Nine adults with early treated classic PKU received magnetic resonance imaging (MRI) with COSY and a battery of neuropsychological tests. Brain Phe and Tyr in parietal white matter (PWM) were compared to results in gray matter of the posterior cingulate gyrus (PCG). Results: Brain Phe ranged from 101 to 182 (mean = 136.76 ± 23.77) μmol/L in PCG and 76 to 185 (mean = 130.11 ± 37.88) μmol/L in PWM. Brain Tyr ranged from 4.0 to 7.4 (mean = 5.44 ± 1.01) μmol/L in PCG and 4.1 to 8.4 (mean = 5.90 ± 1.48) μmol/L in PWM. Correlation coefficients were largest for brain Phe PWM and measures of auditory memory (rho = −0.79), anxiety (rho = 0.79), and executive functioning (rho = 0.69). Associations were in the expected direction, with higher brain Phe and lower brain Tyr related to poorer functioning. The two participants with severe structural MRI abnormalities had low brain Tyr levels in PCG and 3/5 of the participants with moderate to severe MRI abnormalities had higher than average brain Phe levels. Conclusion: COSY has the potential to quantify brain Phe and Tyr at low concentrations and in specific brain regions. In this pilot study, these biomarkers were associated with indices of neuropsychological functioning. Additional studies are needed to validate the COSY results.
Год издания: 2016
Авторы: Susan E. Waisbren, Sanjay P. Prabhu, Patricia Greenstein, Carter R. Petty, Donald L. Schomer, Vera Anastasoaie, Kalin Charette, Daniel Rodríguez, Sai Merugumala, Alexander Lin
Издательство: Wiley
Источник: JIMD Reports
Ключевые слова: Advanced MRI Techniques and Applications, Metabolism and Genetic Disorders, Advanced NMR Techniques and Applications
Другие ссылки: JIMD Reports (HTML)
PubMed Central (HTML)
PubMed (HTML)