Metabolic Brain Disease

, Volume 28, Issue 4, pp 541–550

Antioxidant treatment strategies for hyperphenylalaninemia

  • Priscila Nicolao Mazzola
  • George Albert Karikas
  • Kleopatra H. Schulpis
  • Carlos Severo Dutra-Filho
Review Article

DOI: 10.1007/s11011-013-9414-2

Cite this article as:
Mazzola, P.N., Karikas, G.A., Schulpis, K.H. et al. Metab Brain Dis (2013) 28: 541. doi:10.1007/s11011-013-9414-2

Abstract

Hyperphenylalaninemia (HPA) leads to increased oxidative stress in patients with phenylketonuria (PKU) and in animal models of PKU. Early diagnosis and immediate adherence to a phenylalanine-restricted diet prevents HPA and, consequently, severe brain damage. However, treated adolescent and adult PKU patients have difficulties complying with the diet, leading to an oscillation of phenylalanine levels and associated oxidative stress. The brain is especially susceptible to reactive species, and oxidative stress might add to the impaired cognitive function found in these patients. The restricted PKU diet has a very limited nutrient content from natural foods and almost no animal protein, which reduces the intake of important compounds. These specific compounds can act as scavengers of reactive species and can be co-factors of antioxidant enzymes. Supplementation with nutrients, vitamins, and tetrahydropterin has given quite promising results in patients and animal models. Antioxidant supplementation has been studied in HPA, however there is no consensus about its always beneficial effects. In this way, regular exercise could be a beneficial addition on antioxidant status in PKU patients. A deeper understanding of PKU molecular biochemistry, and genetics, as well as the need for improved targeted treatment options, could lead to the development of new therapeutic strategies.

Keywords

Phenylketonuria Hyperphenylalaninemia Oxidative stress Diet Supplementation Exercise 

Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Priscila Nicolao Mazzola
    • 1
  • George Albert Karikas
    • 2
  • Kleopatra H. Schulpis
    • 3
  • Carlos Severo Dutra-Filho
    • 1
    • 4
  1. 1.Programa de Pós-Graduação em Ciências Biológicas: Bioquímica. Universidade Federal do Rio Grande do SulPorto AlegreBrazil
  2. 2.Department of Medical Laboratories TechnologyFaculty of Health and Caring Professions, Technological and Educational Institute of AthensAthensGreece
  3. 3.Research Institute of Child Health, Children Hospital “Aghia Sophia”AthensGreece
  4. 4.Departamento de BioquímicaICBS, Universidade Federal do Rio Grande do SulPorto AlegreBrazil

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