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Fenilcetonúria

Última revisão: 10 Nov 2024
Última atualização: 14 Feb 2023

Resumo

Definição

História e exame físico

Principais fatores diagnósticos

  • presença de fatores de risco
  • rastreamento neonatal positivo para PKU
Detalhes completos

Outros fatores diagnósticos

  • deficiência intelectual
  • microcefalia
  • eczema
  • pigmentação clara dos olhos e do cabelo
  • convulsões
  • odor de bolor da urina
Detalhes completos

Fatores de risco

  • história familiar de PKU
  • ascendência branca
Detalhes completos

Investigações diagnósticas

Primeiras investigações a serem solicitadas

  • rastreamento neonatal para transtornos metabólicos
Detalhes completos

Investigações a serem consideradas

  • análise quantitativa de aminoácido plasmático
  • ensaio de di-hidropteridina redutase (DHPR) no sangue
  • proporção neopterina/biopterina urinária
  • análise da mutação do gene da fenilalanina hidroxilase
  • teste de responsividade à BH4
Detalhes completos

Algoritmo de tratamento

Aguda

todos os pacientes

Colaboradores

Autores

Barbara K. Burton, MD

Professor of Pediatrics

Northwestern University Feinberg School of Medicine

Director

PKU Clinic

Ann and Robert H. Lurie Children’s Hospital of Chicago

Chicago

IL

Declarações

BKB has received consulting fees and honoraria from Biomarin for speaking engagements. She has conducted contract research funded by Biomarin and Homology Medicines.

Revisores

Berthold Koletzko, MD

Professor of Pediatrics

University of Munich

Head of Division of Metabolic Diseases and Nutritional Medicine

Dr von Hauner Children's Hospital

Ludwig-Maximilians-University of Munich

Lindwurmstr

Germany

Declarações

BK has received research support from Danone Medical Nutrition and is the recipient of a Freedom to Discover Award of the Bristol Myers Squibb Foundation.

Stephanie Sacharow, MD

Medical Geneticist

Division of Genetics and Genomics

Boston Children's Hospital

Boston

MA

Declarações

SS has participated on advisory boards and has given talks at conferences sponsored by Biomarin. She has been a principal investigator in studies with Biomarin, Synlogic, and PTC Therapeutics.

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