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Fenilcetonúria

Última revisão: 13 Feb 2025
Última atualização: 14 Feb 2023

Resumo

定义

病史和体格检查

关键诊断因素

  • presença de fatores de risco
  • rastreamento neonatal positivo para PKU
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其他诊断因素

  • deficiência intelectual
  • microcefalia
  • eczema
  • pigmentação clara dos olhos e do cabelo
  • convulsões
  • odor de bolor da urina
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危险因素

  • história familiar de PKU
  • ascendência branca
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诊断性检查

首要检查

  • rastreamento neonatal para transtornos metabólicos
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需考虑的检查

  • 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
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治疗流程

急症处理

todos os pacientes

撰稿人

作者

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

Disclosures

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

Peer reviewers

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

Disclosures

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

Disclosures

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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