Anthropometric characteristics and nutrition in a cohort of PAH-deficient patients

Aldámiz‐Echevarría, Luis; Bueno, María; Couce, María L.; Lage, Sergio; Dalmau, Jaime; Vitoria, Isidro; Andrade, Fernando; Blasco, Javier; Alcalde, Carlos Losilla; Gil, David; García, María C.; González‐Lamuño, Domingo; Ruiz, Mónica; Quintana, Luis Peña; Ruiz, María Ángeles; González, D.; Sánchez-Valverde, F.

doi:10.1016/j.clnu.2013.09.011

Cited by 38 publications

(65 citation statements)

References 26 publications

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“…In contrast with other studies, which did not observe differences in plasma HDL levels in PKU children compared to controls [30–32], we found that HDL-C and ApoA levels were statistically significantly lower in PKU patients. However, LDL-C and ApoB levels were statistically significantly lower in the group of PKU patients, which is an indicator of low atherogenic risk.…”

Section: Discussioncontrasting

confidence: 99%

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Lipid profile status and other related factors in patients with Hyperphenylalaninaemia

Couce

Vitoria

Aldámiz‐Echevarría

et al. 2016

Orphanet J Rare Dis

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BackgroundThe mainstay of treating patients with phenylketonuria (PKU) is based on a Phe-restricted diet, restrictive in natural protein combined with Phe-free L-amino acid supplements and low protein foods. This PKU diet seems to reduce atherogenesis and confer protection against cardiovascular diseases but the results from the few published studies have been inconclusive. The aim of our study was to evaluate the relationship between the lipid profile and several treatment-related risk factors in patients with hyperphenylalaninaemia (HPA) in order to optimize their monitoring.MethodsWe conducted a cross-sectional multicentre study. A total of 141 patients with HPA were classified according to age, phenotype, type of treatment and dietary adherence. Annual median blood phenylalanine (Phe) levels, Phe tolerance, anthropometric measurements, blood pressure (BP) and biochemical parameters [(triglycerides, total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), low density lipoprotein-cholesterol (LDL-C), apolipoprotein A (ApoA), apolipoprotein B (ApoB), vitamin B12, total homocysteine (tHcy), Methionine (Met), high sensitivity C-Reactive Protein (hsCRP)] were collected for each patient.ResultsPlasma TC levels were lower in patients with PKU than in the mild-HPA group (150 ± 31 vs. 164 ± 22 mg/dL), and there was a weak inverse correlation between plasma TC and Phe levels. HDL-C, LDL-C, ApoA and ApoB levels were lower in the PKU group than in mild-HPA. Patients with PKU had higher systolic BP than the mild-HPA group and there was found a quadratic correlation between median Phe levels and systolic BP (p = 6.42e-5) and a linear correlation between median Phe levels and diastolic BP (p = 5.65e-4). In overweight or obese PKU patients (24.11 %), biochemical parameters such as TC, triglycerides, LDL-C, tHcy, hsCRP and BP were higher. By contrast, HDL-C was lower in these patients.ConclusionOur data show a direct correlation between lipid profile parameters and good adherence to the diet in PKU patients. However, lipid profile in overweight or obese patients displayed an atherogenic profile, in addition to higher hsCRP concentrations and BP. Our study contributes to a better understanding of the relationship between phenotype and treatment in patients with HPA, which could be useful in improving follow-up strategies and clinical outcome.Trial registrationResearch Ethics Committee of Santiago-Lugo 2015/393. Registered 22 September 2015, retrospectively registered.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-016-0508-x) contains supplementary material, which is available to authorized users.

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Section: Discussioncontrasting

confidence: 99%

“…As far as overweight and obesity is concerned, there are several reports which suggested a clear tendency towards overweight and obesity in patients with PKU [32, 38–40], according to their BMI values. In this regard, we observed in our cohort that BMI Z-score and WC were higher in the group of PKU patients compared to the MHPA group.…”

Section: Discussionmentioning

confidence: 99%

Lipid profile status and other related factors in patients with Hyperphenylalaninaemia

Couce

Vitoria

Aldámiz‐Echevarría

et al. 2016

Orphanet J Rare Dis

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“…Compared with the healthy population, the occurrence of obesity in women diagnosed with female PKU was significantly higher in the age group between eight and 18 years old. 28 A significant increase in body fat mass was also observed in women adolescents with PKU compared to prepubertal patients. 29 Regarding the possible causal factors for the higher prevalence of overweight in the population with PKU, it was reported that dietary interventions can be a contributing factor, as well as the low incentive to practice physical activities.…”

Section: Referencementioning

confidence: 92%

“…29 Regarding the possible causal factors for the higher prevalence of overweight in the population with PKU, it was reported that dietary interventions can be a contributing factor, as well as the low incentive to practice physical activities. 25,28 An article 25 cited changes in body composition (lower percentage of lean mass) as a probable factor influencing excess weight in the individuals analyzed.…”

Section: Referencementioning

confidence: 99%

Overweight and Associated Factors in Children and Adolescents With Phenylketonuria: A Systematic Review

Sena

Andrade

Silva

et al. 2020

Rev. paul. pediatr.

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Objective: To verify the occurrence of overweight in children and adolescents with phenylketonuria and to identify possible causal factors.Data sources: A systematic review was performed in the SciELO, PubMed and VHL databases using the descriptors "Phenylketonurias", "Overweight", "Child" and "Adolescent". Original articles conducted with children and adolescents, published between 2008 and 2018 in Portuguese, English or Spanish languages were included.Data synthesis: A total of 16 articles were identified and, after screening procedures, 6 studies were selected for the review.Overweight in children and adolescents with phenylketonuria was a frequent occurence in the studies included in this review, ranging from 7.8 to 32.6%. The female sex was the most affected by the nutritional disorder. Furthermore, a high caloric intake combined with a lack of stimuli to practice physical activities were main factors associated with the excessive weight in the population of interest.Conclusions: Excess weight can be considered a common outcome in children and adolescents with phenylketonuria. It is mainly caused by inadequate food consumption and sedentary lifestyle.The importance of early identification of nutritional disturbances in children and adolescents with phenylketonuria should be emphasized, in order to prevent associated chronic diseases and to promote health by encouraging continued healthy eating habits and the regular practice of physical exercises.Objetivo: Verificar a ocorrência de excesso de peso em crianças e adolescentes com fenilcetonúria e identificar possíveis fatores causais. Fontes de dados: Revisão sistemática realizada nas bases de dados Scientific Eletronic Library Online (SciELO), Publisher Medline (PubMed) e Biblioteca Virtual em Saúde (BVS) com os descritores "Phenylketonurias", "Overweight", "Child" e "Adolescent". Foram incluídos artigos originais sobre crianças e adolescentes, publicados entre 2008 e 2018 nos idiomas português, inglês ou espanhol. Síntese dos dados: Foram identificados 16 artigos e, após aplicação dos procedimentos de seleção, 6 estudos foram selecionados para compor a revisão. O excesso de peso em crianças e adolescentes com fenilcetonúria foi evento frequente nos estudos incluídos na presente revisão, variando de 7,8 a 32,6%. Aponta-se o sexo feminino como o grupo mais acometido pelo distúrbio nutricional.O principal fator associado ao excesso de peso na população de interesse na população de interesse foi o consumo calórico elevado aliado à falta de estímulos para a prática de atividades físicas.Conclusões: O excesso de peso pode ser considerado um desfecho comum em crianças e adolescentes com fenilcetonúria, sendo ocasionado principalmente pelo consumo alimentar inadequado e pelo sedentarismo. Salienta-se a importância da identificação precoce de agravos nutricionais em crianças e adolescentes fenilcetonúricos, a fim de prevenir doenças crônicas associadas e promover a saúde, com incentivo à manutenção de hábitos alimentares saudáveis e à prática regular de exercícios fí...

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“…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%

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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Anthropometric characteristics and nutrition in a cohort of PAH-deficient patients

Cited by 38 publications

References 26 publications

Lipid profile status and other related factors in patients with Hyperphenylalaninaemia

Lipid profile status and other related factors in patients with Hyperphenylalaninaemia

Overweight and Associated Factors in Children and Adolescents With Phenylketonuria: A Systematic Review

Weight Management in Phenylketonuria: What Should Be Monitored?

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