Transtorno do Déficit de Atenção e Hiperatividade em pacientes com fenilcetonúria: revisão bibliográfica

Authors

  • Amanda Cristina da Silva
  • Larissa Maria de Paula Davoglio
  • Alexandre Federisi
  • Alisson Lima de Aguiar
  • Ana Laura Folcheti Garcia
  • Claudia Rodrigues Mustafa Dias
  • Gabriela Maria de Paula Davoglio
  • Ithalo de Sousa Bonomi Stábile
  • José Garcia Neto
  • Luiza Moura de Almeida Abreu
  • Erica Lopes de Carvalho
  • Pâmela Santos Fabro
  • Bruno Antunes Contrucci

DOI:

https://doi.org/10.34119/bjhrv7n4-098

Keywords:

fenilcetonúria, erro inato do metabolismo, transtornos neurodesenvolvimento, transtorno do déficit de atenção e hiperatividade

Abstract

Caracterizada pela deficiência da enzima fenilalanina hidrolixase, a fenilcetonúria (PKU) apresenta-se com elevação sérica do aminoácido aromático fenilalanina (Phe) associado a prejuízo em formação de tirosina. Tanto o acúmulo de substrato quanto a falta do produto resultam em sintomas e sinais clínicos, principalmente relacionados ao desenvolvimento neuropsicomotor com atraso global, hipotonia, crises epilépticas quando não controlada de forma adequada. Além disso, nota-se elevada incidência de distúrbios neurocomportamentais em fenilcetonúricos, principalmente relacionados a condições de disfunção no córtex pré-frontal, como é o caso do transtorno do déficit de atenção e hiperatividade. Com finalidade de entendimento melhor sobre essas condições clínicas, realizado revisão bibliográfica da literatura atual para avaliar a associação entre TDAH e fenilcetonúricos, bem como suas incidências, entendimento de suas bases fisiopatológicas, sintomatológicas clínicas, tratamento e impactos gerais.  Notou-se importante relação entre ambas, com aumento da prevalência de TDAH em pacientes com PKU. O controle dietético com manutenção dos níveis séricos de Phe em faixa terapêutica foi evidenciado como parte fundamental para melhores desempenhos neurocognitivos bem como redução importante em sintomas desatentos e hiperativos.

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Published

07/16/2024

How to Cite

SILVA, A. C. da; DAVOGLIO, L. M. de P.; FEDERISI, A.; AGUIAR, A. L. de; GARCIA, A. L. F.; DIAS, C. R. M.; DAVOGLIO, G. M. de P.; STÁBILE, I. de S. B.; GARCIA NETO, J.; ABREU, L. M. de A.; CARVALHO, E. L. de; FABRO, P. S.; CONTRUCCI, B. A. Transtorno do Déficit de Atenção e Hiperatividade em pacientes com fenilcetonúria: revisão bibliográfica. Brazilian Journal of Health Review, [S. l.], v. 7, n. 4, p. e71275, 2024. DOI: 10.34119/bjhrv7n4-098. Disponível em: https://ojs.brazilianjournals.com.br/ojs/index.php/BJHR/article/view/71275. Acesso em: 19 oct. 2026.

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Section

Original Papers