Resumo
Definição
História e exame físico
Principais fatores diagnósticos
- family history of phenylketonuria (PKU)
- positive newborn screen for phenylketonuria
Outros fatores diagnósticos
- intellectual disability
- microcephaly
- eczema
- light pigmentation of eyes and hair
- seizures
- mousy odor of urine
Fatores de risco
- family history of phenylketonuria (PKU)
- white ancestry
Investigações diagnósticas
Primeiras investigações a serem solicitadas
- newborn screening for metabolic disorders
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
Algoritmo de tratamento
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
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 diferenciaisDiretrizes
- Phenylalanine hydroxylase deficiency diagnosis and management
- PKU nutrition management guidelines
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