Living with PKU
An information guide for people living with phenylketonuria and their families — from newborn screening and the first years, through school, adulthood and pregnancy.
A European PKU awareness platform
Understanding PKU, wherever you are in Europe.
This hub explains phenylketonuria in plain language. Read the basics, page through the patient brochure, or check what you already know in a short quiz.
The basics
PKU is not only a diagnosis. It is the people who live with it every day: children, parents, adults, and the clinicians and dietitians who support them.
Here is what phenylketonuria is, in plain terms. For anything about your own care, your metabolic centre is the place to go, and the country sites below carry the detail in your language.
A metabolic condition
An enzyme called PAH normally breaks down phenylalanine (Phe), a building block of dietary protein. In PKU that enzyme does not work fully, so Phe builds up in the body.1
It is inherited
PKU is passed on genetically. When both parents carry the altered gene, a child can be born with PKU, often without the family knowing beforehand.2
Rare, but not alone
Around 1 in 10,000 people in Europe live with PKU, one of the more common rare inherited metabolic conditions.3
Found early, managed for life
PKU cannot be seen, but newborn screening detects it right after birth. Found early and well supported, it is manageable throughout life.4
This is general awareness information and is not a substitute for medical advice. For questions about your own situation, please speak to your doctor or metabolic centre.
Explore
Learn about PKU at your own pace
Two ways in: page through the patient brochure on screen, or check what you already know in a short quiz. Both are general awareness materials and do not replace advice from your healthcare team.
What do you know about PKU?
Ten short questions on how PKU works, how it is found and how it is managed. Every answer comes with a plain-language explanation. Nothing is stored and nothing is scored publicly.
Intended audience. This platform is intended for members of the public in Europe. The brochure and the quiz are general disease awareness materials. They do not provide medical advice and do not replace advice from your treating healthcare professional. Please always speak to your doctor or metabolic centre about your own care.
References
- van Wegberg AMJ, et al. The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet J Rare Dis. 2017;12:162.
- Hillert A, et al. The Genetic Landscape and Epidemiology of Phenylketonuria. Am J Hum Genet. 2020;107(2):234-250 - covers genetics and country-level prevalence variation.
- van Wegberg AMJ, et al. The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet J Rare Dis. 2017;12:162.
- van Spronsen FJ, et al. Phenylketonuria. Nat Rev Dis Primers. 2021;7:36 - covers untreated outcomes, newborn screening, and diet as the mainstay of treatment.