Sierra C, Vilaseca M A, Moyano D, Brandi N, Campistol J, Lambruschini N, Cambra F J, Deulofeu R, Mira A
Laboratori, Hospital Universitari Sant Joan de Déu, Barcelona, Spain.
Clin Chim Acta. 1998 Aug 10;276(1):1-9. doi: 10.1016/s0009-8981(98)00091-6.
Abnormal oxidative stress was observed in some inborn errors of metabolism owing to the accumulation of toxic metabolites leading to excessive free radical production and to the influence of restricted diets on the antioxidant status. Erythrocyte antioxidant enzymes activities and tocopherol concentrations were measured in a group of phenylketonuric (n = 42) and mild-hyperphenylalaninemic (n = 28) patients compared with 45 age-matched controls. We also determined plasma selenium levels in these groups. We also evaluated the possible relationship between antioxidant status and neuropsychological disorders. Erythrocyte glutathione peroxidase (GSH-Px) activity was significantly lower (P < 0.001) in both phenylketonuric and mild-hyperphenylalaninemic patients compared with the control group, but no differences were observed between the two groups of patients. Neuropsychological disturbances were more frequent in the group of PKU patients with low GSH-Px activity than in PKU patients with normal GSH-Px. Low GSH-Px activity might be explained in phenylketonuria as a result of a selenium deficiency caused by a poor selenium intake or absorption, but not in mild hyperphenylalaninemic patients with free diet. Selenium levels were normal in both groups of patients, so low glutathione peroxidase activity in both phenylketonuric and hyperphenylalaninemic groups might be influenced by other factors, such as the consequences of an unbalanced amino acid profile, common to both conditions.
在一些先天性代谢缺陷中观察到异常的氧化应激，这是由于有毒代谢产物的积累导致自由基产生过多，以及受限饮食对抗氧化状态的影响。在一组苯丙酮尿症患者（n = 42）和轻度高苯丙氨酸血症患者（n = 28）中测量了红细胞抗氧化酶活性和生育酚浓度，并与45名年龄匹配的对照组进行比较。我们还测定了这些组的血浆硒水平。我们还评估了抗氧化状态与神经心理障碍之间的可能关系。与对照组相比，苯丙酮尿症患者和轻度高苯丙氨酸血症患者的红细胞谷胱甘肽过氧化物酶（GSH-Px）活性均显著降低（P < 0.001），但两组患者之间未观察到差异。GSH-Px活性低的苯丙酮尿症患者组的神经心理障碍比GSH-Px正常的苯丙酮尿症患者更频繁。在苯丙酮尿症中，GSH-Px活性低可能是由于硒摄入或吸收不良导致的硒缺乏，但在自由饮食的轻度高苯丙氨酸血症患者中并非如此。两组患者的硒水平均正常，因此苯丙酮尿症组和高苯丙氨酸血症组的谷胱甘肽过氧化物酶活性低可能受其他因素影响，例如两种情况共有的氨基酸谱不平衡的后果。
