Chilean Nutrition Management Protocol for Patients With Phenylketonuria

Castro, G.; Hamilton, Valerie; Cornejo, Verónica

doi:10.1177/2326409816689788

Cited by 13 publications

(17 citation statements)

References 17 publications

(35 reference statements)

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“…[4][5][6] The main objectives of the dietary therapy employed are: to maintain normal growth and development, and to maintain PHE plasma levels within limits to prevent mental retardation, promote the maintenance of plasma tyrosine levels and provide anabolism. 7 Because the dietary plan of individuals with PKU is limited in protein, including proteins with a high biological value, it contains protein substitutes that have reduced amounts of PHE, which directly interferes with the patient's needs for dietary growth and development. 4,5 On the other hand, changes in dietary patterns of the general population (increased consumption of high energy density foods and low nutritional value) and the reduction of regular physical activity have led to an overall increase in the incidence of obesity and excess weight in all age groups.…”

Section: Introductionmentioning

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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Section: Introductionmentioning

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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“…There is a consensus that individuals with Phe levels >600 µmol/L should be treated, but the evidence regarding the initiation of treatment with blood Phe concentrations between 360 and 600 µmol/L is inconsistent. Given the risk of neurocognitive consequences, most guidelines recommend initiating treatment when blood Phe concentrations are >360 µmol/L [8,13,14].…”

Section: Discussionmentioning

confidence: 99%

“…For infants younger than 1 year of age, most (61%) centers aimed for Phe levels to be between 120 and 240 µmol/L, a goal that differed from the American and European guidelines, which recommend a Phe target of 120-360 µmol/L [13,14]. Chilean guidelines support the 120-240 µmol/L target at this age, since in this period many factors interfere with the Phe level, such as growth, teething, infections, and frequent vaccinations [8]. The age group with the highest heterogeneity was >12 years, with 11 different targets reported.…”

Section: Discussionmentioning

confidence: 99%

“…Moreover, a trained health care team is needed to manage the extremely restrictive diet and to educate patients and families, and frequent laboratory tests are required to guide the treatment. The current situation of PKU diagnosis and management in Latin America is unknown, since only sparse and country-based reports have been published [ 8 , 9 , 10 , 11 , 12 ]. Therefore, the aim of this study was to map the current practices in the diagnosis and dietary management of PKU in Latin America, as well as the main barriers to treatment perceived by health care providers.…”

Section: Introductionmentioning

confidence: 99%

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Current Practices and Challenges in the Diagnosis and Management of PKU in Latin America: A Multicenter Survey

et al. 2021

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This study aimed to describe the current practices in the diagnosis and dietary management of phenylketonuria (PKU) in Latin America, as well as the main barriers to treatment. We developed a 44-item online survey aimed at health professionals. After a pilot test, the final version was sent to 25 practitioners working with inborn errors of metabolism (IEM) in 14 countries. Our results include 22 centers in 13 countries. Most countries (12/13) screened newborns for PKU. Phenylalanine (Phe) targets at different ages were very heterogeneous among centers, with greater consistency at the 0–1 year age group (14/22 sought 120–240 µmol/L) and the lowest at >12 years (10 targets reported). Most countries had only unflavored powdered amino acid substitutes (10/13) and did not have low-protein foods (8/13). Only 3/13 countries had regional databases of the Phe content of foods, and only 4/22 centers had nutrient analysis software. The perceived obstacles to treatment were: low purchasing power (62%), limited/insufficient availability of low-protein foods (60%), poor adherence, and lack of technical resources to manage the diet (50% each). We observed a heterogeneous scenario in the dietary management of PKU, and most countries experienced a lack of dietary resources for both patients and health professionals.

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“…Since 2010 the recommendation regarding targeted blood Phe concentration was modified from ≥ 2 to < 6 mg/dL (≥ 120 to < 360 μmol/L) to ≥ 2 to < 4 mg/dL (≥ 120 to < 240 μmol/L), for infants during their first year of life. Children in this age group are considered to be more susceptible to common diseases in our population, which impacts metabolic control [6] . Also, in 2009 the recommendation for children over 8 years of age, was modified from ≥ 2 to < 8 mg/dL (≥ 120 to < 480 μmol/L) to ≥ 2 to < 6 mg/dL (≥ 120 to < 360 μmol/L) considering the evidence available during that period [12] .…”

Section: Introductionmentioning

confidence: 99%

First-year metabolic control guidelines and their impact on future metabolic control and neurocognitive functioning in children with PKU

Parra

García

Hamilton

et al. 2017

Molecular Genetics and Metabolism Reports

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There is a consensus on the importance of early and life-long treatment for PKU patients. Still, differences exist on target blood phenylalanine (Phe) concentrations for children with PKU in different countries and treatment centers. For the first time, long-term metabolic control and child development and cognitive functioning is compared between children with mean phenylalanine concentrations under 240 μmol/L (group A), between 240 and 360 μmol/L (group B) or over 360 μmol/L (group C) during their first year of life. METHODS: 70 patients diagnosed with PKU through neonatal screening with Phe > 900 μmol/L, were divided into 3 groups: A, B and C, according to mean Phe concentrations and standard deviation (SD). Metabolic control during childhood, psychomotor development and IQ were compared. RESULTS: In group A, Phe was maintained within the recommended range until 6 years of age, in Group B, until 3 years of age, and in group C, Phe was always over the recommended range. No significant differences were found between the three groups in mental development index (MDI) and motor development index (PDI) scores at 12, 24, and 30 months of age, but group C had the lowest scores on MDI at all age periods. At preschool and school age, IQ was higher in group A compared to group C. CONCLUSION: Results show that mean blood Phe concentrations between 120 and 240 μmol/L during first year of life have a positive impact in metabolic control and cognitive functioning during childhood.

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Chilean Nutrition Management Protocol for Patients With Phenylketonuria

Cited by 13 publications

References 17 publications

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

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

Current Practices and Challenges in the Diagnosis and Management of PKU in Latin America: A Multicenter Survey

First-year metabolic control guidelines and their impact on future metabolic control and neurocognitive functioning in children with PKU

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