Antioxidant status in hyperphenylalaninemia

Clin Chim Acta. 1998 Aug 10;276(1):1-9. doi: 10.1016/s0009-8981(98)00091-6.

Abstract

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.

MeSH terms

  • Adolescent
  • Amino Acid Metabolism, Inborn Errors / blood*
  • Amino Acid Metabolism, Inborn Errors / enzymology
  • Antioxidants / analysis*
  • Catalase / blood
  • Child
  • Child, Preschool
  • Electroencephalography
  • Erythrocytes / chemistry*
  • Female
  • Glutathione Peroxidase / blood
  • Glutathione Reductase / blood
  • Humans
  • Infant
  • Intelligence Tests
  • Male
  • Phenylalanine / blood*
  • Phenylketonurias / blood
  • Phenylketonurias / enzymology
  • Superoxide Dismutase / blood
  • Vitamin E / blood

Substances

  • Antioxidants
  • Vitamin E
  • Phenylalanine
  • Catalase
  • Glutathione Peroxidase
  • Superoxide Dismutase
  • Glutathione Reductase