Última revisão: 5 Fev 2021
Última atualização: 28 Set 2018

Resumo

Definição

História e exame físico

Principais fatores diagnósticos

  • história familiar de PKU
  • rastreamento neonatal positivo para PKU

Outros fatores diagnósticos

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

Fatores de risco

  • história familiar de PKU
  • ascendência branca

Investigações diagnósticas

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

Algoritmo de tratamento

Colaboradores

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 funding for the conduct of clinical trials from BioMarin Pharmaceutical, the manufacturer of sapropterin and pegvaliase (pegylated phenylalanine ammonia-lyase).

RevisoresVER TUDO

Senior Physician in Medicine/Genetics

Children's Hospital Boston

Professor of Pediatrics

Harvard Medical School

Boston

MA

Declarações

HLL has served on the PKU Scientific Advisory Board for BioMarin Pharmaceuticals Inc. and has received consultation fees from the company for attending meetings, giving lectures, and participating in symposia. BioMarin markets treatment for phenylketonuria.

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.

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