Kumru Burcu, Ozturk Hismi Burcu, Kaplan Davut Sinan, Celik Hakim
Division of Nutrition and Diet, Gaziantep Cengiz Gökçek Maternity and Children's Hospital, Gaziantep, Turkey, Phone: +905321623092, Fax: +03423600888.
Division of Pediatric Metabolism and Nutrition, Tepecik Training and Research Hospital, Izmir, Turkey.
J Pediatr Endocrinol Metab. 2019 Mar 26;32(3):269-274. doi: 10.1515/jpem-2018-0454.
Background Oxidative stress may be one of the causes responsible for mental retardation in phenylketonuria (PKU) patients. Phenylalanine (Phe) reduces antioxidant defense and promotes oxidative stress by causing increase in reactive oxygen-nitrogen species. Our study aimed to investigate the effect of different treatments (amino acid mixture/large neutral amino acid [LNAA] supplements) on oxidative stress which are applied to late-diagnosed patients. To the best of our knowledge, this is the first study to investigate the effect of LNAA supplements on oxidative stress. Methods Twenty late-diagnosed classic PKU patients were included in this study. Patients were classified into two groups: patients under Phe-restricted diet and using Phe-free amino acid mixtures (Group I) (mean age: 13.8 ± 2.8), and patients taking LNAA supplements (Group II) (mean age: 14.8 ± 3.8). Healthy controls (mean age: 13.6 ± 4.8) with ages consistent with the ages of the patients in the experimental groups were included. Results Glutathione peroxidase is lower in patients of taking LNAA supplements than the control group (p = 0.022). Coenzyme Q10 is lower in patients of using Phe-free amino acid mixtures than the control group and it is significantly higher in Group II than Group I (p = 0.0001, p = 0.028, respectively). No significant differences were detected in total antioxidant status, total oxidant status, oxidative stress index, paraoxonase 1 and L-carnitine levels. Conclusions Different treatments affect oxidative stress parameters in PKU patients. In this study, although patients were followed up with classic PKU, patient-specific adjuvant antioxidant therapies should be implemented in response to oxidative stress.
背景 氧化应激可能是苯丙酮尿症（PKU）患者智力发育迟缓的原因之一。苯丙氨酸（Phe）通过导致活性氧-氮物质增加来降低抗氧化防御并促进氧化应激。我们的研究旨在调查不同治疗方法（氨基酸混合物/大中性氨基酸[LNAA]补充剂）对应用于晚诊断患者的氧化应激的影响。据我们所知，这是第一项研究LNAA补充剂对氧化应激影响的研究。方法 本研究纳入了20例晚诊断的经典PKU患者。患者分为两组：接受Phe限制饮食并使用无Phe氨基酸混合物的患者（第一组）（平均年龄：13.8±2.8），以及服用LNAA补充剂的患者（第二组）（平均年龄：14.8±3.8）。纳入年龄与实验组患者年龄一致的健康对照（平均年龄：13.6±4.8）。结果 服用LNAA补充剂的患者谷胱甘肽过氧化物酶低于对照组（p = 0.022）。使用无Phe氨基酸混合物的患者辅酶Q10低于对照组，且在第二组中显著高于第一组（分别为p = 0.0001，p = 0.028）。在总抗氧化状态、总氧化剂状态、氧化应激指数、对氧磷酶1和L-肉碱水平方面未检测到显著差异。结论 不同治疗方法影响PKU患者的氧化应激参数。在本研究中，尽管患者按照经典PKU进行随访，但应针对氧化应激实施针对患者的辅助抗氧化治疗。
