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Is the phenylalanine-restricted diet a risk factor for overweight and obesity in patients with phenylketonuri
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RESUMO
Introdução: A fenilcetonúria (PKU) é uma doença hereditária do metabolismo da fenilalanina (Fen) de
transmissão autossómica recessiva, causada principalmente por mutações no gene da fenilalanina
hidroxilase. Para prevenir as sequelas neurológicas consequentes dos níveis aumentados de Fen, os
doentes com PKU devem seguir uma dieta restrita em Fen, com ou sem a prescrição de dicloridrato de
sapropterina, mantendo os níveis de Fen no sangue dentro de um intervalo terapêutico. Embora exista uma
ideia geral de que a dieta restrita em Fen promove o excesso de peso em doentes com PKU, é incerto se a
evidência científica sustenta esta ideia.
Objetivo: Esta revisão sistemática teve como objetivo determinar se os doentes com PKU têm maior risco
de desenvolver excesso de peso em comparação com controlos sem PKU, e determinar a associação entre a
exposição precoce à restrição em Fen e o excesso de peso em doentes com PKU.
Metodologia: A pesquisa bibliográfica foi realizada nas bases de dados PubMed, The Cochrane Library e
Embase. O risco de viés dos estudos individuais foi avaliado com a Quality Assessment Tool for
Observational Cohort and Cross-Sectional Studies, e a qualidade da evidência para cada resultado foi
avaliada com o NutriGrade scoring system.
Resultados: Dos 829 artigos identificados, 15 foram incluídos na revisão sistemática, e 12 na meta-análise.
O Índice de Massa Corporal (IMC) foi semelhante entre os doentes com PKU e controlos sem PKU, o que
não permite sustentar a ideia de que uma dieta restrita em Fen é um fator de risco para o desenvolvimento
de excesso de peso. No entanto, o subgrupo de doentes com PKU clássica apresentou um IMC
significativamente superior ao dos controlos sem PKU. Para além disso, os estudos com alto risco de viés e
os estudos que incluíram tanto doentes tratados com dieta como doentes tratados com dicloridrato de
sapropterina, encontraram um IMC significativamente maior em doentes com PKU, em comparação com os
controlos sem PKU.
Conclusão: Embora a dieta restrita em Fen não pareça ser um fator de risco para o desenvolvimento de
excesso de peso, dado o aumento da prevalência da doença na população geral, os doentes com PKU
devem ser acompanhados a longo prazo, por uma equipa multidisciplinar, com a monitorização contínua
do seu estado nutricional e aconselhamento nutricional personalizado. São necessários mais estudos, com
desenho e metodologia mais adequados, para responder a esta questão e ajudar a orientar a prática clínica
dos profissionais de saúde.
ABSTRACT Background: Phenylketonuria (PKU) is a rare autosomal recessive inborn error of phenylalanine (Phe) metabolism, mostly caused by mutations in the phenylalanine hydroxylase gene. To prevent neurological sequel from Phe high levels, patients with PKU must follow a Phe-restricted diet, with or without prescribed sapropterin dihydrochloride, maintaining blood Phe levels within a therapeutic target range. Although there is a general assumption that a Phe-restricted diet promotes overweight in patients with PKU, it is unclear whether this presumption is supported by scientific evidence. Aim: This systematic review aimed at determining if patients with PKU have a higher risk of overweight compared to non-PKU controls, and assessing the association between early exposure to Phe-restriction and overweight in patients with PKU. Methodology: A literature search was carried out on PubMed, The Cochrane Library and Embase databases. Risk of bias of individual studies was assessed using the Quality Assessment Tool for Observational Cohort and Cross-Sectional Studies, and the quality of the evidence for each outcome was assessed using the NutriGrade scoring system. Results: From 829 articles identified, 15 were included in the systematic review and 12 in the meta-analysis. Body mass index (BMI) was similar between patients with PKU and non-PKU controls, providing no evidence to support that a Phe-restricted diet is a risk factor for the development of overweight. However, the subgroup of patients with classical PKU had a significantly higher BMI than non-PKU controls. In addition, studies assessed as poor with high risk of bias, and studies that included both diet treated and sapropterin dihydrochloride treated patients, found a significantly higher BMI in patients with PKU compared to non-PKU controls. Conclusion: Although the Phe-restricted diet does not appear to be a risk factor for the development of overweight, given the increasing prevalence of the disease in the general population, patients with PKU should remain in long term follow up. This should be done by a multidisciplinary team, and include systematic nutritional status monitoring and personalised nutritional advice. Further studies with improved methodology are needed to fully address this question, and to help guiding the clinical practice of health professionals.
ABSTRACT Background: Phenylketonuria (PKU) is a rare autosomal recessive inborn error of phenylalanine (Phe) metabolism, mostly caused by mutations in the phenylalanine hydroxylase gene. To prevent neurological sequel from Phe high levels, patients with PKU must follow a Phe-restricted diet, with or without prescribed sapropterin dihydrochloride, maintaining blood Phe levels within a therapeutic target range. Although there is a general assumption that a Phe-restricted diet promotes overweight in patients with PKU, it is unclear whether this presumption is supported by scientific evidence. Aim: This systematic review aimed at determining if patients with PKU have a higher risk of overweight compared to non-PKU controls, and assessing the association between early exposure to Phe-restriction and overweight in patients with PKU. Methodology: A literature search was carried out on PubMed, The Cochrane Library and Embase databases. Risk of bias of individual studies was assessed using the Quality Assessment Tool for Observational Cohort and Cross-Sectional Studies, and the quality of the evidence for each outcome was assessed using the NutriGrade scoring system. Results: From 829 articles identified, 15 were included in the systematic review and 12 in the meta-analysis. Body mass index (BMI) was similar between patients with PKU and non-PKU controls, providing no evidence to support that a Phe-restricted diet is a risk factor for the development of overweight. However, the subgroup of patients with classical PKU had a significantly higher BMI than non-PKU controls. In addition, studies assessed as poor with high risk of bias, and studies that included both diet treated and sapropterin dihydrochloride treated patients, found a significantly higher BMI in patients with PKU compared to non-PKU controls. Conclusion: Although the Phe-restricted diet does not appear to be a risk factor for the development of overweight, given the increasing prevalence of the disease in the general population, patients with PKU should remain in long term follow up. This should be done by a multidisciplinary team, and include systematic nutritional status monitoring and personalised nutritional advice. Further studies with improved methodology are needed to fully address this question, and to help guiding the clinical practice of health professionals.
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Palavras-chave
Dieta Restrita em Fenilalanina Excesso de Peso Fenilcetonúria Índice de massa corporal Obesidade Restrição de Fenilalanina Body Mass Index Obesity, overweight Phenylalanine Restriction Phenylalanine-restricted Diet Phenylketonuria