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
其他诊断因素
- deficiência intelectual
- microcefalia
- eczema
- pigmentação clara dos olhos e do cabelo
- convulsões
- odor de bolor da urina
危险因素
- história familiar de PKU
- ascendência branca
诊断性检查
首要检查
- rastreamento neonatal para transtornos metabólicos
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
治疗流程
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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