The influence of phenylketonuria on anthropometric measures of patients 10 to 19 years: a systematic review

Authors

DOI:

https://doi.org/10.33448/rsd-v11i4.27026

Keywords:

Phenylketonuria; Adolescent; Metabolism; Anthropometry; Overweight.

Abstract

Phenylketonuria (PKU) is a genetic disease, of autosomal recessive inheritance, caused by biallelic mutations in the PAH gene that encodes the enzyme phenylalanine hydroxylase (FAH) whose treatment is only dietary (BRASIL, 2019). The available literature highlights that patients with phenylketonuria are more susceptible to being overweight compared to the healthy population. Systematically tracing the current literature is of great importance to generate knowledge for possible interventions for health promotion and disease prevention in this population. The aim of the present study was to verify the influence of Phenylketonuria on the anthropometric measurements of adolescents aged between 10 and 19 years old. This is a descriptive study through a systematic review carried out in the Scientific Electronic Library Online (SciELO), Publisher Medline (PubMed) and Virtual Health Library (BVS) databases with the descriptors "Anthropometry", "Overweight", " Adolescent”, “Metabolism”. Original articles about adolescents, published between 2011 and 2021 in Portuguese, English or Spanish, were included. A total of 184 articles were identified and, after applying the selection methods, 5 studies were selected to compose the review. Overweight and excess weight were frequent in the selected studies, ranging from 8.51% to 11.9% and 10.63% to 32.6%, respectively. Female sex was identified as a risk factor for nutritional disorders. The main cause associated with the nutritional disorder was the protein-restricted diet associated with high calorie consumption combined with low physical activity. Therefore, it can be concluded that adolescents diagnosed with phenylketonuria have anthropometric measurements that follow the pattern of the healthy population, with a prevalence of overweight and obesity in females. On the other hand, it is observed that the literature on this topic is scarce, requiring further studies to better define the anthropometric profile of these patients and associated factors.

References

Aldámiz-Echevarría, L. et al (2014). Anthropometric characteristics and nutrition in a cohort of PAH-deficient patients. Clinical nutrition, 33(4), 702-717.

Almeida, R. M. de (2018). A influência dos Exercícios Físicos Funcionais em crianças de 7 a 10 anos com sobrepeso e obesidade: uma revisão Bibliográfica. Orientadora: Solange Maria Magalhães da Silva Porto. TCC (Graduação) – Bacharelado em Educação Física, Universidade Federal de Pernambuco, Vitória de Santo Antão.

Belanger-Quintana, A., & Martínez-Pardo, M. (2011). Physical development in patients with phenylketonuria on dietary treatment: a retrospective study. Molecular genetics and metabolism, 104(4), 480-484.

Brasil. Ministério da Saúde. Secretaria de Ciência, Tecnologia e Insumos Estratégicos. Departamento de Ciência e Tecnologia (2014). Diretrizes metodológicas: elaboração de revisão sistemática e metanálise de ensaios clínicos randomizados. Brasília: Ministério da Saúde.

Brasil. Ministério da Saúde. Secretaria de Ciência, Tecnologia, Inovação e Insumos Estratégicos em Saúde. Departamento de Gestão e Incorporação de Tecnologias e Inovação em Saúde (2019). Protocolo Clínico e Diretrizes Terapêuticas da Fenilcetonúria. Brasília, Ministério da Saúde.

Burrage, L. C. et al (2012). Alta prevalência de sobrepeso e obesidade em mulheres com fenilcetonúria. Genética molecular e metabolismo, 107(1-2), 43-48.

Camatta, G. C. (2017). Influência do consumo proteico, da prática de atividade física, do controle metabólico, do estágio de maturação sexual e do IMC no percentual de gordura corporal de adolescentes fenilcetonúricos. Orientador: Profª. Dra. Ana Lúcia Pimenta Starling. Dissertação (Mestrado) - Curso de pós-graduação da Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte.

Camatta, G. C., et al (2020). Body fat percentage in adolescents with phenylketonuria and associated factors. Molecular Genetics and Metabolism Reports, 23, 100595.

Couce, M. L. et al (2015). New insights in growth of phenylketonuric patients. European journal of pediatrics, 174(5), 651-659.

Cunha, L. F. da (2014). A importância de uma alimentação adequada na educação infantile. Orientador: Eder Lisandro de Moraes Flores. Monografia (Especialização). Universidade Tecnológica Federal do Paraná.

Cuschieri, S. (2019). The STROBE guidelines. Saudi journal of anaesthesia, 13(1), S31.

De Almeida, B. N. de F., et al (2020). Nutritional and metabolic parameters of children and adolescents with phenylketonuria. Clinical nutrition ESPEN, 37, 44-49.

De Marqui, A. B. T. (2017). Fenilcetonúria: aspectos genéticos, diagnóstico e tratamento. Revista da Sociedade Brasileira de Clínica Médica, 15(4), 282-288.

Dokoupil, K. et al (2016). Otimizando o crescimento na fenilcetonúria: estado atual da base de evidências clínicas. Nutrição Clínica , 31(1), 16-21.

Ezgu, F (2016). Inborn Errors Of Metabolism. Adv Clin Chem. 73:195-250.

Ferreira, C. R., Van Karnebeek, C. D. M., Vockley, J., & Blau, N (2019). A proposed nosology of inborn errors of metabolism. Genet Med. Jan, 21(1):102-106.

Ferreira, C. R., & Van Karnebeek, C. D. M (2019). Inborn errors of metabolism. Handb Clin Neurol., 162:449-481.

Galvão, T. F., Pansani, T. S. A., & Harrad, D. (2015). Principais itens para relatar Revisões sistemáticas e Meta-análises: A recomendação PRISMA. Epidemiologia e Serviços de Saúde, v. 24, p. 335-342.

Gokmen Ozel, H., Ahring, K., Bélanger-Quintana, A., Dokoupil, K., Lammardo, A. M., Robert, M., Rocha, J. C., Almeida, M. F., van Rijn, M., & MacDonald, A. (2014). Overweight and obesity in PKU: The results from 8 centres in Europe and Turkey. Molecular genetics and metabolism reports, 1, 483–486.

Husny, A. S. El, & Fernandes-Caldato, M. C. (2006). Erros inatos do metabolismo: revisão de literatura. Rev. Para. Med., 20(2), 41-45.

Kanufre, V. d. C. (2012). Excesso de peso em crianças e adolescentes com Fenilcetonúria: características clínicas e alterações metabólicas. Orientador: Profª Drª Rocksane de Carvalho Norton. Tese (doutorado). Universidade Federal de Minas Gerais, Belo Horizonte.

Mazzola, P. N., et al (2016). Analysis of body composition and nutritional status in Brazilian phenylketonuria patients. Molecular genetics and metabolism reports, 6, 16-20.

Ng, M., Fleming, T., Robinson, M., Thomson, B., Graetz, N., Margono, C., Mullany, E. C., Biryukov, S., Abbafati, C., Abera, S. F., Abraham, J. P., Abu-Rmeileh, N. M., Achoki, T., AlBuhairan, F. S., Alemu, Z. A., Alfonso, R., Ali, M. K., Ali, R., Guzman, N. A., Ammar, W., & Gakidou, E. (2014). Global, regional, and national prevalence of overweight and obesity in children and adults during 1980-2013: a systematic analysis for the Global Burden of Disease Study 2013. Lancet (London, England), 384(9945), 766–781.

Nogueira, Z. D. et al (2021). Controle metabólico e composição corporal de crianças e adolescentes com diagnóstico neonatal de fenilcetonúria. Revista Paulista de Pediatria, v. 39.

Romao, A. et al (2017). Apresentação clínica inicial dos casos de erros inatos do metabolismo de um hospital pediátrico de referência: ainda um desafio diagnóstico. Revista Paulista de Pediatria. São Paulo, v.35, n.3, p.258-264.

Saudubray, J. M., & Garcia-Cazorla, À (2018). Inborn Errors of Metabolism Overview: Pathophysiology, Manifestations, Evaluation, and Management. Pediatr Clin North Am. 65(2):179-208.

Sailer, M. et al (2020). Nutrient intake, body composition, and blood phenylalanine control in children with phenylketonuria compared to healthy controls. Molecular Genetics and Metabolism Reports, 23, 100599.

Rocha, J. C. et al. (2020). Dietary treatment in phenylketonuria does not lead to increased risk of obesity or metabolic syndrome. Molecular genetics and metabolism, 107(4), 659-663.

Rocha, J. C. et al. Early dietary treated patients with phenylketonuria can achieve normal growth and body composition. Molecular genetics and metabolism, 110, S40-S43.

Rocha, J. C., Macdonald, A., & Trefz, F. (2013). Is overweight an issue in phenylketonuria? Molecular genetics and metabolism, 110, S18-S24.

Sena, B. dos S. et al. (2020). Overweight and associated factors in children and adolescents with phenylketonuria: a systematic review. Revista Paulista de Pediatria, 38.

Sergipe (2020). Dia Nacional: SES destaca a importância do Teste do Pezinho.

Silveira, A. M., Lima, P. L., Alves, M., Soares, R., Kanufre, V. C., Rodrigues, V. M., Starling, A., Norton, R. C., & Aguiar, M. (2022). Overweight/obesity in adolescents with phenylketonuria: protective and predisposing factors. Jornal de pediatria, 98(1), 104–110. https://doi.org/10.1016/j.jped.2021.04.009

Thiele, Alena G. et al (2017). Growth and final height among children with phenylketonuria. Pediatrics, 140(5).

Verduci, E. et al (2016). Diet in children with phenylketonuria and risk of cardiovascular disease: a narrative overview. Nutrition, Metabolism and Cardiovascular Diseases, 26(3), 171-177.

Yang, C. et al (2020). Newborn screening and diagnosis of inborn errors of metabolism: A 5-year study in an eastern Chinese population. Clinica Chimica Acta, 502, 133-138.

Walkowiak, D., et al. (2019). Overweight in classical phenylketonuria children: A retrospective cohort study. Advances in medical sciences, 64(2), 409-414.

WENG, H-L., et al. (2020) Dietary intake and nutritional status of patients with phenylketonuria in Taiwan. Scientific Reports, 10(1), 1-6.

Published

10/03/2022

How to Cite

OLIVEIRA, N. C. de .; ROSA, C. K. G. .; CARTAXO, Émile D. de C. .; ROSA, D. de M. A.; OLIVEIRA, H. F. The influence of phenylketonuria on anthropometric measures of patients 10 to 19 years: a systematic review. Research, Society and Development, [S. l.], v. 11, n. 4, p. e5911427026, 2022. DOI: 10.33448/rsd-v11i4.27026. Disponível em: https://www.rsdjournal.org/index.php/rsd/article/view/27026. Acesso em: 19 apr. 2024.

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Section

Health Sciences