Abstract
Mental retardation, which occurs in phenylketonuric patients, is associated with increased levels of phenylalanine, increased oxidative stress, and an imbalance of amino acids in the brain. Recent studies have shown that oxidative stress plays a role in the pathogenesis of phenylketonuria. In this work, we aimed to compare the influence of blood phenylalanine levels on oxidative stress parameters in phenylketonuric patients who divided patients into groups according to blood Phe levels during follow-up visits and compared these groups with healthy controls. Results showed significant differences in glutathione peroxidase (GSHPx), coenzyme Q10 (Q10), Q10/cholesterol, and l-carnitine levels in phenylketonuria patients and the control group. GSHPx, Q10, and Q10/cholesterol levels were significantly lower in poor adherence patients than in the control groups. l-carnitine levels were significantly increased in good adherence patients than poor adherence patients and decreased in poor adherence patients than healthy controls. No correlations were observed between phenylalanine and l-carnitine concentrations in poor adherence group. No significant differences were observed in paraoxonase 1 (PON1), total antioxidant status (TAS), total oxidant status (TOS) and oxidative stress index (OSI) levels. As a result, in this work, poor adherence patients are prone to oxidative stress. Although the patients may have the same diagnosis, patients have different clinical characteristics and different prognosis. Antioxidants can be used as an adjuvant therapy in order to avoid neurological damage in these patients.
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This study was supported by Gaziantep University Scientific Research Projects Governing Unit.
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BK, DSK, and BOH conceived the study design. BK, DSK, BOH, and HC performed the experiment. BK and DSK participated in the data analysis and interpretation. BOH helped to draft and revise the manuscript. All authors read and approved the final manuscripts.
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The authors (Burcu Kumru, Davut Sinan Kaplan, Burcu Oztürk Hismi, Hakim Celik) declare that there are no financial interests and/or no conflict of interest disclosure associated with this manuscript.
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Kumru, B., Kaplan, D.S., Oztürk Hismi, B. et al. Effect of Blood Phenylalanine Levels on Oxidative Stress in Classical Phenylketonuric Patients. Cell Mol Neurobiol 38, 1033–1038 (2018). https://doi.org/10.1007/s10571-017-0573-2
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DOI: https://doi.org/10.1007/s10571-017-0573-2