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Phenylketonuria

Última revisão: 24 Jul 2025
Última atualização: 20 May 2025

Resumo

Definição

História e exame físico

Principais fatores diagnósticos

  • family history of phenylketonuria (PKU)
  • positive newborn screen for phenylketonuria
Detalhes completos

Outros fatores diagnósticos

  • intellectual disability
  • microcephaly
  • eczema
  • light pigmentation of eyes and hair
  • seizures
  • mousy odor of urine
Detalhes completos

Fatores de risco

  • family history of phenylketonuria (PKU)
  • white ancestry
Detalhes completos

Investigações diagnósticas

Primeiras investigações a serem solicitadas

  • newborn screening for metabolic disorders
Detalhes completos

Investigações a serem consideradas

  • quantitative plasma amino acid analysis
  • blood dihydropteridine reductase (DHPR) assay
  • urine neopterin to biopterin ratio
  • mutation analysis of phenylalanine hydroxylase gene
  • tetrahydrobiopterin (BH4)-responsiveness test
Detalhes completos

Algoritmo de tratamento

AGUDA

all patients

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 from Biomarin, PTC Therapeutics, and Jnana.

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.

Referências

Nossas equipes internas de editoria e de evidências trabalham em conjunto com colaboradores internacionais especializados e pares revisores para garantir que forneçamos acesso às informações o mais clinicamente relevantes possível.

Principais artigos

National Institutes of Health Consensus Development Panel. National Institutes of Health consensus development conference statement: phenylketonuria - screening and management. 2000 [internet publication].Texto completo

Smith WE, Berry SA, Bloom K, et al. Phenylalanine hydroxylase deficiency diagnosis and management: a 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2025 Jan;27(1):101289.Texto completo  Resumo

van Wegberg AMJ, MacDonald A, Ahring K, et al. The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet J Rare Dis. 2017 Oct 12;12(1):162.Texto completo  Resumo

Artigos de referência

Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.
  • Diagnósticos diferenciais

    • Inborn errors of tetrahydrobiopterin or recycling
    • Hepatic dysfunction
    • Extreme prematurity
    Mais Diagnósticos diferenciais
  • Diretrizes

    • Phenylalanine hydroxylase deficiency diagnosis and management
    • PKU nutrition management guidelines
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  • Folhetos informativos para os pacientes

    ADHD: what is it?

    ADHD: questions to ask your doctor

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