Summary
Definition
History and exam
Key diagnostic factors
- family history of phenylketonuria (PKU)
- positive newborn screen for phenylketonuria
Other diagnostic factors
- intellectual disability
- microcephaly
- eczema
- light pigmentation of eyes and hair
- seizures
- mousy odor of urine
Risk factors
- family history of phenylketonuria (PKU)
- white ancestry
Diagnostic tests
1st tests to order
- newborn screening for metabolic disorders
Tests to consider
- 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
Treatment algorithm
all patients
Contributors
Authors
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
利益声明
BKB has received consulting fees from Biomarin, PTC Therapeutics, and Jnana.
同行评议者
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
利益声明
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
利益声明
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.
Peer reviewer acknowledgements
BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.
Disclosures
Peer reviewer affiliations and disclosures pertain to the time of the review.
参考文献
关键文献
National Institutes of Health Consensus Development Panel. National Institutes of Health consensus development conference statement: phenylketonuria - screening and management. 2000 [internet publication].全文
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.全文 摘要
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.全文 摘要
参考文献
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
鉴别诊断
- Inborn errors of tetrahydrobiopterin or recycling
- Hepatic dysfunction
- Extreme prematurity
更多 鉴别诊断指南
- Phenylalanine hydroxylase deficiency diagnosis and management
- PKU nutrition management guidelines
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