Investigation of oxidative stress parameters in treated phenylketonuric patients

Sitta, Ângela; Barschak, Alethéa Gatto; Deon, Marion; Terroso, Thatiana Ferreira; Pires, Ricardo Flores; Giugliani, Roberto; Dutra-Filho, Carlos Severo; Wajner, Moaçir; Vargas, Carmen Regla

doi:10.1007/s11011-006-9035-0

Cited by 60 publications

(43 citation statements)

References 33 publications

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“…Figure 3 illustrates the results of our study compared with results of several studies on PKU patients, in vitro and in vivo models. As in the present study, several studies on PKU patients, adults and children with or without restrictive diet, highlighted a decrease of GPx enzyme in various (Menzel et al 1983;Reilly et al 1990;Sierra et al 1998;Sitta et al 2006;Sanayama et al 2011). The reduced expression of antioxidant systems that we observed could lead to an inefficient response to oxidative stress and by consequences to elevation of ROS levels (superoxide and hydroxyl anions especially) responsible for cellular damages previously highlighted in PKU (Ercal et al 2002;Sitta et al 2009;Sanayama et al 2011) and which may lead to brain injury observed in the disease.…”

Section: Discussionsupporting

confidence: 76%

“…3 Schematic representation of main results of the study (black arrows) compared with results of several studies on PKU patients, in vitro and in vivo models (grey arrows). As in this study, several studies highlighted a decrease of GPx enzyme in various tissues in PKU (Menzel et al 1983;Reilly et al 1990;Sierra et al 1998;Sitta et al 2006;Sanayama et al 2011). The combination of a decrease in expression of GPX and GSR may suggest a reduced activity of the GSH antioxidant system.…”

Section: Discussionsupporting

confidence: 59%

“…In PKU, accumulation of Phe and/or its metabolites may lead to a disturbance of redox homeostasis (Artuch et al 2004;Mazzola et al 2013). Some studies showed an increase of lipoperoxidation markers (Sanayama et al 2011) and DNA damages (Sitta et al 2009), or a reduction of various antioxidant compounds, especially selenium, coenzyme Q10, or antioxidant system of glutathione (Menzel et al 1983;Sitta et al 2006;Sanayama et al 2011). Decrease of antioxidant compounds was also observed in animal and in vitro models of PKU (Ercal et al 2002;Fernandes et al 2010;Mazzola et al 2011;Moraes et al 2014).…”

Section: Introductionmentioning

confidence: 99%

“…Oxidative stress was observed in several diseases such as neurological diseases (Halliwell 2006) and some inborn errors of metabolism including PKU (Sirtori et al 2005;Sitta et al 2006;Deon et al 2015), maple syrup urine disease , tyrosinemia (Bird et al 1995), urea cycle defects, homocystinuria (Streck et al 2003;Vanzin et al 2011), and organic acidurias (Wajner et al 2004). In PKU, accumulation of Phe and/or its metabolites may lead to a disturbance of redox homeostasis (Artuch et al 2004;Mazzola et al 2013).…”

Section: Introductionmentioning

confidence: 99%

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Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Blood Cells of Adult Patients with Phenylketonuria

et al. 2017

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Background: Several studies have highlighted disturbance of redox homeostasis in patients with phenylketonuria (PKU) which may be associated with neurological disorders observed in patients, especially during adulthood when phenylalanine restrictive diets are not maintained. The aim of this study was to assess the antioxidant profile in a cohort of PKU patients in comparison to the controls and to evaluate its relation to biochemical parameters especially phenylalaninemia. Methods:We measured RNA expression of 22 antioxidant genes and reactive oxygen species (ROS) levels in white blood cells of 10 PKU patients and 10 age-and gendermatched controls. We also assessed plasma amino acids, vitamins, oligo-elements, and urinary organic acids concentrations. Then we evaluated the relationship between redox status and biochemical parameters. Results: In addition to expected biochemical disturbances, we highlighted a significant global decrease of antioxidant genes expression in PKU patients in comparison to the controls. This global decrease of antioxidant genes expression, including various isoforms of peroxiredoxins, glutaredoxins, glutathione peroxidases, and superoxide dismutases, was significantly correlated to hyperphenylalaninemia. Conclusion: This study is the first to evaluate the expression of 22 antioxidant genes in white blood cells regarding biochemical parameters in PKU. These findings highlight the association of hyperphenylalaninemia with antioxidant genes expression. New experiments to specify the role of oxidative stress in PKU pathogenesis may be useful in suggesting new recommendations in PKU management and new therapeutic trials based on antioxidant defenses.

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Section: Discussionsupporting

confidence: 76%

Section: Discussionsupporting

confidence: 59%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Blood Cells of Adult Patients with Phenylketonuria

et al. 2017

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“…A complementação de selênio, na dieta, normalizou as concentrações de todos os parâmetros bioquímicos relacionados ao mineral 15,16 , como encontrado no presente trabalho.…”

Section: Discussionunclassified

Selenium intake and nutritional status of children with phenylketonuria in Minas Gerais, Brazil

Alves¹,

Starling²,

Kanufre³

et al. 2012

J Pediatr (Rio J)

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Objective: To evaluate selenium dietary intake and nutritional status of patients with phenylketonuria. Methods:The study prospectively evaluated 54 children with phenylketonuria, from 4 to10 years old. The study was performed before and after the use of a selenium-supplemented amino acid mixture. The second phase of the study was performed after, at least, 90 days of use of the supplementation. Selenium nutritional status was assessed through the analysis of biochemical parameters: serum free thyroxin and selenium and glutathione peroxidase in erythrocytes. Selenium dietary intake was evaluated by the administration of the Food Frequency Questionnaire.Results: Mean age of the children was of 7.0±1.8 years, and 35.2% were female. Mean time of supplementation of selenium, on special formula, was 122.2±25.1 days. The selenium-supplemented amino acid mixture represented 72.9% of the daily supply of the mineral. Upon supplementation, mean concentrations of serum selenium and glutathione peroxidase in erythrocytes increased significantly (p < 0.05). The average daily intake of selenium increased significantly (p < 0.001), reaching the levels recommended by the Dietary Reference Intakes. The concentration of free thyroxin, in serum, presented significant reduction (p < 0.001) in all patients during the second phase of the study, and returned to normal limits in those who had changed levels. Conclusion:Selenium supplementation through protein replacement is effective to improve and adapt the nutritional status of selenium in patients with phenylketonuria.J Pediatr (Rio J). 2012;88(5):396-400: Phenylketonuria, selenium, glutathione peroxidase, thyroid hormones. ResumoObjetivo: Avaliar a ingestão alimentar e o estado nutricional em selênio em pacientes com fenilcetonúria. Métodos:Foram avaliados prospectivamente 54 crianças com fenilcetonúria, entre 4 e 10 anos de idade. O estudo foi realizado antes e após o uso de mistura de aminoácidos complementada com selênio. A segunda fase do estudo foi realizada com, no mínimo, 90 dias de utilização da mistura complementada. O estado nutricional em selênio foi avaliado por meio da análise de parâmetros bioquímicos: dosagens séricas de selênio e tiroxina livre e dosagem de glutationa peroxidase no eritrócito. A ingestão alimentar de selênio foi avaliada por aplicação de Questionário de Frequência Alimentar Quantitativo.Resultados: A idade média das crianças foi de 7,0±1,8 anos, e 35,2% eram do sexo feminino. O tempo médio de complementação de selênio, em fórmula especial, foi de 122,2±25,1 dias. A mistura de aminoácidos complementada com o mineral representou 72,9% da oferta diária de selênio. Após a complementação, as concentrações médias de selênio sérico e de glutationa peroxidase no eritrócito apresentaram aumento significativo (p < 0,05). A ingestão média diária de selênio aumentou significativamente (p < 0,001), alcançando o recomendado pela Ingestão Dietética de Referência. A concentração de tiroxina livre, no soro, apresentou redução significativa (p < 0,001) em tod...

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Pathophysiology of Endogenous Toxins and Their Relation to Inborn Errors of Metabolism and Drug‐Mediated Toxicities

Subrahmanyam

2009

Endogenous Toxins

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Investigation of oxidative stress parameters in treated phenylketonuric patients

Cited by 60 publications

References 33 publications

Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Blood Cells of Adult Patients with Phenylketonuria

Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Blood Cells of Adult Patients with Phenylketonuria

Selenium intake and nutritional status of children with phenylketonuria in Minas Gerais, Brazil

Pathophysiology of Endogenous Toxins and Their Relation to Inborn Errors of Metabolism and Drug‐Mediated Toxicities

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