Dietary treatment in phenylketonuria does not lead to increased risk of obesity or metabolic syndrome

Rocha, Júlio César; Spronsen, Francjan J. van; Almeida, Manuela Ferreira de; Soares, Gabriela Moreira; Quelhas, Dulce; Ramos, Elisabete; Guimarães, João Tiago; Borges, Nuno

doi:10.1016/j.ymgme.2012.10.006

Cited by 70 publications

(99 citation statements)

References 39 publications

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“…As in the study by Rocha et al, 20 the present results demonstrate that patients with PKU and excess weight behave similarly to obese individuals without a genetic disease. However, PKU patients with excess weight may be more susceptible to MS due to factors inherent to the disease.…”

Section: Discussionsupporting

confidence: 90%

“…However, it was verified that most mean blood phe tests were elevated in both groups and that the excess weight group showed a higher number of adequate tests for the variable fasting phe. Belanger-Quintan et al 5 and Rocha et al 20 suggested that the excess weight of PKU patients was related to disease severity. As in the present study most of the participants in both groups had the severe form of the disease, it was not possible to correlate excess weight with disease severity.…”

Section: Discussionmentioning

confidence: 99%

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Metabolic syndrome in children and adolescents with phenylketonuria

Kanufre

Soares

Alves

et al. 2015

Jornal de Pediatria

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Section: Discussionsupporting

confidence: 90%

Section: Discussionmentioning

confidence: 99%

Metabolic syndrome in children and adolescents with phenylketonuria

Kanufre

Soares

Alves

et al. 2015

Jornal de Pediatria

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“…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). We did not highlight correlation suggesting that the unbalanced oxidative status that we observed in PKU patients was related to their higher BMI.…”

Section: Discussionmentioning

confidence: 99%

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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“…Another useful remark is the weakness of BMI as an index of adiposity; although patients with PKU had higher BMI, their FM was comparable to controls. Therefore, for body composition analysis, FMI (FM index, FM g/1000/Ht square [m²]) is preferable to BMI (27). Unfortunately, appropriate age- and sex-specific FMI cut-offs for children have not been established yet.…”

Section: Discussionmentioning

confidence: 99%

Body Composition Profile of Young Patients With Phenylketonuria and Mild Hyperphenylalaninemia

Doulgeraki

Skarpalezou

Theodosiadou

et al. 2014

Int J Endocrinol Metab

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Background:There is evidence in support of low bone density in young patients with disorders of phenylalanine metabolism; however, little is known about muscle and fat mass in these patients, especially in those with mild hyperphenylalaninemia (mHPA).Objectives:We aimed to evaluate body composition of children and adolescents with early-diagnosed disorders of phenylalanine metabolism.Patients and Methods:The study was conducted in the Institute of Child Health, which is the national center that performs newborn screening. Bone, muscle, and fat mass of 48 patients with phenylketonuria (PKU) and 32 patients with mild mHPA, aged five to 18 years, were compared to 57 age- and sex-matched controls. Dual energy X-ray absorptiometry was used for this purpose.Results:Compared to controls, bone mineral density (BMD) was lower in patients with PKU (mean total body BMD z score, 0.11; P = 0.03) and in those with mild mHPA (mean lumbar BMD z score, -0.34; P = 0.01). Lean body mass and fat mass were not significantly affected in the study group. Comparison between the two patients groups did not reveal any difference in body composition profiles; however, pubertal status appeared important for within-group comparisons. Fat mass was significantly increased in teenagers with PKU, which was more evident in those with poor dietary compliance irrespective of gender (fat mass z score, 0.66; P = 0.018). Finally, positive correlations were found not only between bone, muscle, and fat mass in both groups, but also between fat mass and Phenylalanine levels in patients with PKU (r, 0.46; P = 0.001).Conclusions:Bone mineral density appears suboptimal in young patients with disorders of phenylalanine metabolism. Adolescents seemed more prone to obesity, especially when their dietary adherence was poor, whereas muscle mass was not considerably affected. To ensure healthier bones and less fat content, close follow-up as well as proper lifestyle advice is needed.

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Dietary treatment in phenylketonuria does not lead to increased risk of obesity or metabolic syndrome

Cited by 70 publications

References 39 publications

Metabolic syndrome in children and adolescents with phenylketonuria

Metabolic syndrome in children and adolescents with phenylketonuria

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

Body Composition Profile of Young Patients With Phenylketonuria and Mild Hyperphenylalaninemia

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