Navigating a PKU Diagnosis: An Overview for New Parents
Phenylketonuria (PKU) is a rare genetic disorder that affects how the body processes protein. Phenylketonuria is pronounced phe·nyl·ke·ton·uria or PKU for short.
As new parents, it is natural to have questions and concerns when it comes to your child's health. This page aims to provide you with essential information about PKU, including its incidence rates, global perspective, testing methods and management options. We also invite you to watch a heartfelt video in which a family and their healthcare professional share their experiences of managing PKU over the past few years.
Real-Life Experiences
Hearing that your baby has PKU can be overwhelming, but you’re not alone and life with PKU can be happy and rewarding. Watch first-hand how Robyn and Jake have navigated their Daughter’s diagnosis and how Evelyn, who was born in 2023, is thriving with PKU through the support of her family and metabolic team.
Robyn, Jake and their daughter Evelyn are joined by their healthcare professional, Professor Anita MacDonald, to share their journey of discovering Evelyn’s PKU diagnosis at just 10 days old. They discuss the journey they have been on and how they have successfully managed Evelyn’s condition, leading to a happy and healthy two-year-old who is meeting all developmental milestones.
What is PKU?
Phenylketonuria (PKU) is an inherited metabolic disorder that prevents the body from breaking down an amino acid called phenylalanine (Phe), which is found in protein-rich foods. To be more exact, the body has problems with one particular part of protein; Protein is made up of ‘building blocks’ called amino acids. Protein is found in many foods but certain foods (e.g. meat, fish, chicken, nuts and eggs) have more protein than others.
Without proper management, phenylalanine can build up to harmful levels in the blood, potentially leading to developmental delays and neurological complications. Fortunately, with early diagnosis and lifelong dietary management, individuals with PKU can lead healthy and fulfilling lives.
How common is PKU?
PKU is a rare condition, occurring in approximately 1 in 10,000 to 15,000 live births globally. The incidence varies by population, with higher rates observed in certain ethnic groups. For example, PKU is more common in individuals of European descent compared to those of African or Asian descent.
How is PKU diagnosed?
Globally, many countries have implemented newborn screening programs to detect PKU early and allowing for timely intervention. In regions with established screening programs, affected individuals can receive the necessary support and treatment from birth.
Newborn screening for PKU is typically conducted within the first few days of life through a simple blood test. A few drops of blood are taken from the baby's heel and tested for elevated levels of phenylalanine. If the test results indicate a potential PKU diagnosis, further testing is conducted to confirm the condition and infants will receive early management.
Managing PKU for a bright future
With early detection and appropriate management, children with PKU can lead healthy, fulfilling lives.
The primary management for PKU involves a lifelong dietary management plan that restricts phenylalanine intake. This can be successfully achieved by:
Foods for Special Medical Purposes
Protein substitutes are taken every day, they are low in phenylalanine and are essential for a balanced diet. These protein substitutes help provide the necessary nutrients for growth without the harmful amino acid, Phenylalanine.
Low protein foods are used to replace common diet staples that are typically too high in protein to consume, such are pasta, bread and rice.
Regular Monitoring
Frequent blood tests help track phenylalanine levels and ensure they remain within a safe range.
Ongoing Support
Your child’s healthcare team, including metabolic specialists and dietitians, will guide you at every step.
With early diagnosis and proper management, children with PKU can thrive and meet their developmental milestones.
PKU may be rare, but there is a global community of families, healthcare professionals and organisations dedicated to supporting those affected. Early diagnosis and the right management plan ensure that children with PKU can live healthy, fulfilling lives.
If you have any questions or concerns about PKU, please do not hesitate to reach out to your healthcare provider.
Want to hear more from families who have navigated a PKU journey? Watch the Vitafriends Voices Podcast where Kit and Graham interview Aoife Murphy, a new mum navigating the PKU path with her partner and son.