High prevalence of overweight and obesity in females with phenylketonuria

Burrage, Lindsay C.; McConnell, J. B.; Haesler, Rebecca; O’Riordan, Mary Ann; Sutton, V. Reid; Kerr, Douglas S.; McCandless, Shawn E.

doi:10.1016/j.ymgme.2012.07.006

Cited by 62 publications

(69 citation statements)

References 20 publications

(35 reference statements)

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“…As expected we observed a positive correlation between plasma Phe concentrations and urinary concentrations of Phe-derived organic acids (2-hydroxy-phenylacetate, 4-hydroxy-phenylpyruvate). As previously observed, PKU patients of this study presented a higher BMI compared to controls (Belanger-Quintana and Martinez-Pardo 2011; Burrage et al 2012;Robertson et al 2013). This high BMI could be due to an unbalanced diet of PKU patients due to habits acquired during restrictive diet in childhood (Robertson et al 2013), but this hypothesis is controversial (Rocha et al 2012).…”

Section: Discussionsupporting

confidence: 85%

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: 85%

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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“…Not all studies demonstrate overweight in patients with PKU [2,4,[24][25][26][27] , but a developing trend suggests that overweight in PKU is following the general population [2,4,26,27] . However, this outcome should not be commended, as PKU health care professionals should also focus on general health and prevention of overweight is essential.…”

Section: Assessment Of Overweight Obesity and Lifestyle In Patients mentioning

confidence: 99%

“…Cross-sectional data will give an indication of the population under immediate follow-up; longitudinal data will demonstrate the evolution of overweight and obesity and a careful interpretation of data will allow the identification of critical periods, helping to clarify if specific PKU treatment strategies have an obesogenic effect. Some studies have already identified adolescence, especially in females [2,4,28] , and early infancy [29] , as critical periods, thereby requiring particular attention. Preventing an early BMI rebound [29] and an understanding of 4 for patient and family data collection).…”

Section: Proposed 'Gold Standard' Assessment For Data Collection In Pkumentioning

confidence: 99%

“…However, there is concern that obesity may be a common comorbidity. Although in PKU there is still limited evidence, some studies highlight an increased obesity risk particularly in females [2][3][4] . It is therefore essential that PKU health professionals are able to conduct lifestyle 'risk assessments' to identify potential obesogenic factors, consider trends in nutritional status by systematically monitoring key clinical and biochemical measures, and provide effective nutritional and lifestyle advice in order to avoid obesity.…”

Section: Introductionmentioning

confidence: 99%

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Weight Management in Phenylketonuria: What Should Be Monitored?

Rocha¹,

Rijn

Dam

et al. 2015

Ann Nutr Metab

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Background: Severe intellectual disability and growth impairment have been overcome by the success of early and continuous treatment of patients with phenylketonuria (PKU). However, there are some reports of obesity, particularly in women, suggesting that this may be an important comorbidity in PKU. It is becoming evident that in addition to acceptable blood phenylalanine control, metabolic dieticians should regard weight management as part of routine clinical practice. Summary: It is important for practitioners to differentiate the 3 levels for overweight interpretation: anthropometry, body composition and frequency and severity of associated metabolic comorbidities. The main objectives of this review are to suggest proposals for the minimal standard and gold standard for the assessment of weight management in PKU. While the former aims to underline the importance of nutritional status evaluation in every specialized clinic, the second objective is important in establishing an understanding of the breadth of overweight and obesity in PKU in Europe. Key Messages: In PKU, the importance of adopting a European nutritional management strategy on weight management is highlighted in order to optimize long-term health outcomes in patients with PKU.

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“…This approach is likely to promote obesity [4,6]. However, few reports have studied obesity in PKU and most of them only documented the problem as a trend rather than a statistically significant issue without exploring its consequences [6,7]. In this aspect, the weakness of the body mass index (BMI) [8] highlights the importance of body composition analysis.…”

Section: Introductionmentioning

confidence: 99%